TRI32_HUMAN E3 ubiquitin-protein ligase TRIM32 (sprot)

An E3 ubiquitin-protein ligase TRIM32 that is encoded in the genome of human.


MYCB2_HUMAN E3 ubiquitin-protein ligase MYCBP2 (sprot)

An E3 ubiquitin-protein ligase MYCBP2 that is encoded in the genome of human.


MGRN1_HUMAN E3 ubiquitin-protein ligase MGRN1 (sprot)

An E3 ubiquitin-protein ligase MGRN1 that is encoded in the genome of human.


UBR2_HUMAN E3 ubiquitin-protein ligase UBR2 (sprot)

An E3 ubiquitin-protein ligase UBR2 that is encoded in the genome of human.


UBR4_HUMAN E3 ubiquitin-protein ligase UBR4 (sprot)

An E3 ubiquitin-protein ligase UBR4 that is encoded in the genome of human.


AMFR_HUMAN E3 ubiquitin-protein ligase AMFR (sprot)

An E3 ubiquitin-protein ligase AMFR that is encoded in the genome of human.


UBE2S_HUMAN Ubiquitin-conjugating enzyme E2 S (sprot)

A ubiquitin-conjugating enzyme E2 S that is encoded in the genome of human.


PRP19_HUMAN Pre-mRNA-processing factor 19 (sprot)

A pre-mRNA-processing factor 19 that is encoded in the genome of human.


MYLIP_HUMAN E3 ubiquitin-protein ligase MYLIP (sprot)

An E3 ubiquitin-protein ligase MYLIP that is encoded in the genome of human.


UHRF1_HUMAN E3 ubiquitin-protein ligase UHRF1 (sprot)

An E3 ubiquitin-protein ligase UHRF1 that is encoded in the genome of human.


UE2NL_HUMAN Putative ubiquitin-conjugating enzyme E2 N-like (sprot)

A putative ubiquitin-conjugating enzyme E2 N-like that is encoded in the genome of human.


TRI18_HUMAN E3 ubiquitin-protein ligase Midline-1 (sprot)

An E3 ubiquitin-protein ligase Midline-1 that is encoded in the genome of human.


NEDD4_HUMAN E3 ubiquitin-protein ligase NEDD4 (sprot)

An E3 ubiquitin-protein ligase NEDD4 that is encoded in the genome of human.


CNOT4_HUMAN CCR4-NOT transcription complex subunit 4 (sprot)

A CCR4-NOT transcription complex subunit 4 that is encoded in the genome of human.


MARH2_HUMAN E3 ubiquitin-protein ligase MARCHF2 (sprot)

An E3 ubiquitin-protein ligase MARCHF2 that is encoded in the genome of human.


UBR5_HUMAN E3 ubiquitin-protein ligase UBR5 (sprot)

An E3 ubiquitin-protein ligase UBR5 that is encoded in the genome of human.


TRI33_HUMAN E3 ubiquitin-protein ligase TRIM33 (sprot)

An E3 ubiquitin-protein ligase TRIM33 that is encoded in the genome of human.


MARH5_HUMAN E3 ubiquitin-protein ligase MARCHF5 (sprot)

An E3 ubiquitin-protein ligase MARCHF5 that is encoded in the genome of human.


UB2R2_HUMAN Ubiquitin-conjugating enzyme E2 R2 (sprot)

A ubiquitin-conjugating enzyme E2 R2 that is encoded in the genome of human.


MARH1_HUMAN E3 ubiquitin-protein ligase MARCHF1 (sprot)

An E3 ubiquitin-protein ligase MARCHF1 that is encoded in the genome of human.


FANCL_HUMAN E3 ubiquitin-protein ligase FANCL (sprot)

An E3 ubiquitin-protein ligase FANCL that is encoded in the genome of human.


UBA6_HUMAN Ubiquitin-like modifier-activating enzyme 6 (sprot)

A ubiquitin-like modifier-activating enzyme 6 that is encoded in the genome of human.


UBE2W_HUMAN Ubiquitin-conjugating enzyme E2 W (sprot)

A ubiquitin-conjugating enzyme E2 W that is encoded in the genome of human.


CHFR_HUMAN E3 ubiquitin-protein ligase CHFR (sprot)

An E3 ubiquitin-protein ligase CHFR that is encoded in the genome of human.


BRE1A_HUMAN E3 ubiquitin-protein ligase BRE1A (sprot)

An E3 ubiquitin-protein ligase BRE1A that is encoded in the genome of human.


RAD18_HUMAN E3 ubiquitin-protein ligase RAD18 (sprot)

An E3 ubiquitin-protein ligase RAD18 that is encoded in the genome of human.


SMUF1_HUMAN E3 ubiquitin-protein ligase SMURF1 (sprot)

An E3 ubiquitin-protein ligase SMURF1 that is encoded in the genome of human.


BIRC6_HUMAN Baculoviral IAP repeat-containing protein 6 (sprot)

A baculoviral IAP repeat-containing protein 6 that is encoded in the genome of human.


MARH4_HUMAN E3 ubiquitin-protein ligase MARCHF4 (sprot)

An E3 ubiquitin-protein ligase MARCHF4 that is encoded in the genome of human.


CIP1_HUMAN E3 ubiquitin-protein ligase CCNB1IP1 (sprot)

An E3 ubiquitin-protein ligase CCNB1IP1 that is encoded in the genome of human.


RNF5_HUMAN E3 ubiquitin-protein ligase RNF5 (sprot)

An E3 ubiquitin-protein ligase RNF5 that is encoded in the genome of human.


UBE2O_HUMAN (E3-independent) E2 ubiquitin-conjugating enzyme (sprot)

An (E3-independent) E2 ubiquitin-conjugating enzyme that is encoded in the genome of human.


Q05CT6_HUMAN RFWD2 protein (Fragment) (trembl)


SMUF2_HUMAN E3 ubiquitin-protein ligase SMURF2 (sprot)

An E3 ubiquitin-protein ligase SMURF2 that is encoded in the genome of human.


SIAH1_HUMAN E3 ubiquitin-protein ligase SIAH1 (sprot)

An E3 ubiquitin-protein ligase SIAH1 that is encoded in the genome of human.


SIAH2_HUMAN E3 ubiquitin-protein ligase SIAH2 (sprot)

An E3 ubiquitin-protein ligase SIAH2 that is encoded in the genome of human.


MARH7_HUMAN E3 ubiquitin-protein ligase MARCHF7 (sprot)

An E3 ubiquitin-protein ligase MARCHF7 that is encoded in the genome of human.


UBE2Z_HUMAN Ubiquitin-conjugating enzyme E2 Z (sprot)

A ubiquitin-conjugating enzyme E2 Z that is encoded in the genome of human.


UBA7_HUMAN Ubiquitin-like modifier-activating enzyme 7 (sprot)

A ubiquitin-like modifier-activating enzyme 7 that is encoded in the genome of human.


A4D1L5_HUMAN Ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast) (trembl)


UBE3A_HUMAN Ubiquitin-protein ligase E3A (sprot)

A ubiquitin-protein ligase E3A that is encoded in the genome of human.


RN128_HUMAN E3 ubiquitin-protein ligase RNF128 (sprot)

An E3 ubiquitin-protein ligase RNF128 that is encoded in the genome of human.


TRI11_HUMAN E3 ubiquitin-protein ligase TRIM11 (sprot)

An E3 ubiquitin-protein ligase TRIM11 that is encoded in the genome of human.


Q59H81_HUMAN BRCA1 associated protein variant (Fragment) (trembl)


SYVN1_HUMAN E3 ubiquitin-protein ligase synoviolin (sprot)

An E3 ubiquitin-protein ligase synoviolin that is encoded in the genome of human.


TRI63_HUMAN E3 ubiquitin-protein ligase TRIM63 (sprot)

An E3 ubiquitin-protein ligase TRIM63 that is encoded in the genome of human.


LNX1_HUMAN E3 ubiquitin-protein ligase LNX (sprot)

An E3 ubiquitin-protein ligase LNX that is encoded in the genome of human.


ZNRF1_HUMAN E3 ubiquitin-protein ligase ZNRF1 (sprot)

An E3 ubiquitin-protein ligase ZNRF1 that is encoded in the genome of human.


TRIM5_HUMAN Tripartite motif-containing protein 5 (sprot)

A tripartite motif-containing protein 5 that is encoded in the genome of human.


UBE3B_HUMAN Ubiquitin-protein ligase E3B (sprot)

A ubiquitin-protein ligase E3B that is encoded in the genome of human.


RNF8_HUMAN E3 ubiquitin-protein ligase RNF8 (sprot)

An E3 ubiquitin-protein ligase RNF8 that is encoded in the genome of human.


LRSM1_HUMAN E3 ubiquitin-protein ligase LRSAM1 (sprot)

An E3 ubiquitin-protein ligase LRSAM1 that is encoded in the genome of human.


UB2Q2_HUMAN Ubiquitin-conjugating enzyme E2 Q2 (sprot)

A ubiquitin-conjugating enzyme E2 Q2 that is encoded in the genome of human.


MARH9_HUMAN E3 ubiquitin-protein ligase MARCHF9 (sprot)

An E3 ubiquitin-protein ligase MARCHF9 that is encoded in the genome of human.


TRIPC_HUMAN E3 ubiquitin-protein ligase TRIP12 (sprot)

An E3 ubiquitin-protein ligase TRIP12 that is encoded in the genome of human.


DZIP3_HUMAN E3 ubiquitin-protein ligase DZIP3 (sprot)

An E3 ubiquitin-protein ligase DZIP3 that is encoded in the genome of human.


UBE3C_HUMAN Ubiquitin-protein ligase E3C (sprot)

A ubiquitin-protein ligase E3C that is encoded in the genome of human.


SYAM_HUMAN Alanine--tRNA ligase, mitochondrial (sprot)

An alanine--tRNA ligase, mitochondrial that is encoded in the genome of human.


SYIM_HUMAN Isoleucine--tRNA ligase, mitochondrial (sprot)

An isoleucine--tRNA ligase, mitochondrial that is encoded in the genome of human.


LIPT_HUMAN Lipoyltransferase 1, mitochondrial (sprot)

A lipoyltransferase 1, mitochondrial that is encoded in the genome of human.


SYPM_HUMAN Probable proline--tRNA ligase, mitochondrial (sprot)

A probable proline--tRNA ligase, mitochondrial that is encoded in the genome of human.


ACBG2_HUMAN Long-chain-fatty-acid--CoA ligase ACSBG2 (sprot)

A long-chain-fatty-acid--CoA ligase ACSBG2 that is encoded in the genome of human.


ACBG1_HUMAN Long-chain-fatty-acid--CoA ligase ACSBG1 (sprot)

A long-chain-fatty-acid--CoA ligase ACSBG1 that is encoded in the genome of human.


MIB1_HUMAN E3 ubiquitin-protein ligase MIB1 (sprot)

An E3 ubiquitin-protein ligase MIB1 that is encoded in the genome of human.


RN138_HUMAN E3 ubiquitin-protein ligase RNF138 (sprot)

An E3 ubiquitin-protein ligase RNF138 that is encoded in the genome of human.


RING2_HUMAN E3 ubiquitin-protein ligase RING2 (sprot)

An E3 ubiquitin-protein ligase RING2 that is encoded in the genome of human.


ADPPT_HUMAN L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase (sprot)

An L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase that is encoded in the genome of human.


SAE1_HUMAN SUMO-activating enzyme subunit 1 (sprot)

A SUMO-activating enzyme subunit 1 that is encoded in the genome of human.


UB2D4_HUMAN Ubiquitin-conjugating enzyme E2 D4 (sprot)

A ubiquitin-conjugating enzyme E2 D4 that is encoded in the genome of human.


UBE4A_HUMAN Ubiquitin conjugation factor E4 A (sprot)

A ubiquitin conjugation factor E4 A that is encoded in the genome of human.


R144B_HUMAN E3 ubiquitin-protein ligase RNF144B (sprot)

An E3 ubiquitin-protein ligase RNF144B that is encoded in the genome of human.


ADPRM_HUMAN Manganese-dependent ADP-ribose/CDP-alcohol diphosphatase (sprot)

A manganese-dependent ADP-ribose/CDP-alcohol diphosphatase that is encoded in the genome of human.


KAD6_HUMAN Adenylate kinase isoenzyme 6 (sprot)

An adenylate kinase isoenzyme 6 that is encoded in the genome of human.


KAD8_HUMAN Adenylate kinase 8 (sprot)

An adenylate kinase 8 that is encoded in the genome of human.


RTCB_HUMAN RNA-splicing ligase RtcB homolog (sprot)

An RNA-splicing ligase RtcB that is encoded in the genome of human.


THG1_HUMAN Probable tRNA(His) guanylyltransferase (sprot)

A probable tRNA(His) guanylyltransferase that is encoded in the genome of human.


TRI25_HUMAN E3 ubiquitin/ISG15 ligase TRIM25 (sprot)

An E3 ubiquitin/ISG15 ligase TRIM25 that is encoded in the genome of human.


U2QL1_HUMAN Ubiquitin-conjugating enzyme E2Q-like protein 1 (sprot)

A ubiquitin-conjugating enzyme E2Q-like protein 1 that is encoded in the genome of human.


UB2G2_HUMAN Ubiquitin-conjugating enzyme E2 G2 (sprot)

A ubiquitin-conjugating enzyme E2 G2 that is encoded in the genome of human.


UB2Q1_HUMAN Ubiquitin-conjugating enzyme E2 Q1 (sprot)

A ubiquitin-conjugating enzyme E2 Q1 that is encoded in the genome of human.


UB2R1_HUMAN Ubiquitin-conjugating enzyme E2 R1 (sprot)

A ubiquitin-conjugating enzyme E2 R1 that is encoded in the genome of human.


UBE2H_HUMAN Ubiquitin-conjugating enzyme E2 H (sprot)

A ubiquitin-conjugating enzyme E2 H that is encoded in the genome of human.


UBE2K_HUMAN Ubiquitin-conjugating enzyme E2 K (sprot)

A ubiquitin-conjugating enzyme E2 K that is encoded in the genome of human.


UBE2T_HUMAN Ubiquitin-conjugating enzyme E2 T (sprot)

A ubiquitin-conjugating enzyme E2 T that is encoded in the genome of human.


Adenosine Phosphate

A purine ribonucleoside 5'-monophosphate having adenine as the nucleobase.


Galactose Metabolism,Metabolic

biolink:Pathway biolink:BiologicalProcess biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:OntologyClass biolink:Occurrent biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent


AGAL_HUMAN Alpha-galactosidase A (sprot)

An alpha-galactosidase A that is encoded in the genome of human.


MGA_HUMAN Maltase-glucoamylase (sprot)

A maltase-glucoamylase that is encoded in the genome of human.


GANC_HUMAN Neutral alpha-glucosidase C (sprot)

A neutral alpha-glucosidase C that is encoded in the genome of human.


A glycosylglucose consisting of alpha-D-galactopyranose and alpha-D-glucopyranose residues joined in sequence by a (1->6) glycosidic bond.


Intracellular Signalling Through Adenosine Receptor A2a and Adenosine,Protein


Intracellular Signalling Through Adenosine Receptor A2b and Adenosine,Protein,Adenosine is thought to play a role in the pathophysiology of asthma. Stimulation of A2B can induce production of interleukin-8 mast cells. The adenosine receptor A2b activates G(s) proteins which lead to the activation of adenylyl cyclase which produces the secondary messenger cAMP. cAMP activates PKA (protein kinase A) which phosphorylates down stream effectors that lead to a specific cellular response. This occurs though activation of the MAPK/ERK signaling cascade.


adenosine kinase deficiency

biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:ThingWithTaxon

A rare inborn error of metabolism characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement.


adenylosuccinate lyase deficiency

Adenylosuccinate lyase deficiency (ADSL deficiency) is a disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features.


SAHH3_HUMAN Adenosylhomocysteinase 3 (sprot)

An adenosylhomocysteinase 3 that is encoded in the genome of human.


An adenosylhomocysteinase that is encoded in the genome of human.


SAHH2_HUMAN S-adenosylhomocysteine hydrolase-like protein 1 (sprot)

An S-adenosylhomocysteine hydrolase-like protein 1 that is encoded in the genome of human.


ADA_HUMAN Adenosine deaminase (sprot)

An adenosine deaminase that is encoded in the genome of human.


AA1R_HUMAN Adenosine receptor A1 (sprot)

An adenosine receptor A1 that is encoded in the genome of human.


AA2AR_HUMAN Adenosine receptor A2a (sprot)

An adenosine receptor A2a that is encoded in the genome of human.


AA2BR_HUMAN Adenosine receptor A2b (sprot)

An adenosine receptor A2b that is encoded in the genome of human.


S35B2_HUMAN Adenosine 3'-phospho 5'-phosphosulfate transporter 1 (sprot)

An adenosine 3'-phospho 5'-phosphosulfate transporter 1 that is encoded in the genome of human.


S35B3_HUMAN Adenosine 3'-phospho 5'-phosphosulfate transporter 2 (sprot)

An adenosine 3'-phospho 5'-phosphosulfate transporter 2 that is encoded in the genome of human.


ADA2_HUMAN Adenosine deaminase 2 (sprot)

An adenosine deaminase 2 that is encoded in the genome of human.


Adenosine

A ribonucleoside composed of a molecule of adenine attached to a ribofuranose moiety via a beta-N(9)-glycosidic bond.


Citalopram Metabolism Pathway,Drug Metabolism


Congenital Erythropoietic Porphyria (CEP) or Gunther Disease,Disease


D-Arginine and D-Ornithine Metabolism,Metabolic


Gemcitabine Metabolism Pathway,Drug Metabolism


Methylenetetrahydrofolate Reductase Deficiency (MTHFRD),Disease


3-methylcrotonyl-CoA carboxylase 1 deficiency

Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC1 gene.


isolated sulfite oxidase deficiency

Abnormally reduced sulfite oxidase level.


citrullinemia type I

Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I) and by variable hyperammonemia in the later-onset form (adult-onset citrullinemia type I).


citrullinemia, type II, adult-onset

Adult-onset citrullinemia type II is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. The condition chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. These signs and symptoms can be life-threatening. The signs and symptoms appear during adulthood and are triggered by certain medications, infections, surgery, and alcohol intake.The features of adult-onset type II citrullinemia may also develop in people who as infants had a liver disorder called neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). In many cases, the signs and symptoms of NICCD resolve within a year. Years or even decades later, however, some of these people develop the characteristic features of adult-onset type II citrullinemia.adult-onset citrullinemia type II is caused by mutations in the SLC25A13 gene. This condition is inherited in an autosomal recessive pattern.


acyl-CoA dehydrogenase 9 deficiency

A rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy.


hyperdibasic aminoaciduria type 1

Hyperdibasic aminoaciduria, type 1 is characterized by increased renal clearance of lysine, ornithine and arginine, in the presence of normal concentrations of cystine. Heterozygous individuals are asymptomatic but homozygotes display intellectual deficit. To date, 25 heterozygotes and one homozygote have been reported.


Pearson syndrome

Pearson syndrome is characterized by refractory sideroblastic anemia, vacuolization of bone marrow precursors and exocrine pancreatic dysfunction.


ALDH18A1-related de Barsy syndrome

ALDH18A1-related De Barsy syndrome combines intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity.


recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome

Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy.


mitochondrial trifunctional protein deficiency

Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy..


Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations.


infantile liver failure syndrome 2

Any infantile liver failure in which the cause of the disease is a mutation in the NBAS gene.


long chain fatty acids, defect in transport of


myopathy, lactic acidosis, and sideroblastic anemia 1

Any myopathy, lactic acidosis, and sideroblastic anemia in which the cause of the disease is a mutation in the PUS1 gene.


phosphoenolpyruvate carboxykinase deficiency, cytosolic

PEPCK1 deficiency is a rare inborn error of metabolism disorder, characterized by the deficiency of the enzyme PEPCK1, one of the enzymes needed for gluconeogenesis, the process by which organisms produce sugars (namely glucose) from non-carbohydrate precursors (such as amino acids). The symptoms described in the few cases reported in the medical literature suggest that there may be variation in the severity of the symptoms ranging from severe early-onset cases, to milder late-onset presentations. In severe cases symptoms may include persistent and very low levels of blood's sugar in newborns (neonatal hypoglycemia), failure to thrive, build-up of lactic acid in the blood (lactic acidosis), liver enlargement (hepatomegaly) and liver failure leading to neurological degeneration. Milder cases present during childhood with fewer and less serious liver problems. Infections and fasting may trigger the symptoms. PEPCK1 deficiency inheritance is autosomal recessive. It is caused by mutations in the PEPCK1 gene. Some researchers believe that the severity of the disease depend upon the mutations resulting in less or more PEPCK1 activity (the more active the enzyme is, the less severe the disease is, and vice versa). Treatment depend on the symptoms and may include giving extra carbohydrates during heavy exercise and illness or other times of fasting (formal sick day regimen) by the dietitian.PEPCK1 is the cytosolic form of the phosphoenolpyruvate carboxykinase (PEPCK) enzyme, the other being the mitochondrial (PEPCK2).


DCTD_HUMAN Deoxycytidylate deaminase (sprot)

A deoxycytidylate deaminase that is encoded in the genome of human.


OXDD_HUMAN D-aspartate oxidase (sprot)

A D-aspartate oxidase that is encoded in the genome of human.


OXDA_HUMAN D-amino-acid oxidase (sprot)

A D-amino-acid oxidase that is encoded in the genome of human.


GNPI1_HUMAN Glucosamine-6-phosphate isomerase 1 (sprot)

A glucosamine-6-phosphate isomerase 1 that is encoded in the genome of human.


HEM3_HUMAN Porphobilinogen deaminase (sprot)

A porphobilinogen deaminase that is encoded in the genome of human.


CPSM_HUMAN Carbamoyl-phosphate synthase [ammonia], mitochondrial (sprot)

A carbamoyl-phosphate synthase [ammonia], mitochondrial that is encoded in the genome of human.


KAT1_HUMAN Kynurenine--oxoglutarate transaminase 1 (sprot)

A kynurenine--oxoglutarate transaminase 1 that is encoded in the genome of human.


TGM3_HUMAN Protein-glutamine gamma-glutamyltransferase E (sprot)

A protein-glutamine gamma-glutamyltransferase E that is encoded in the genome of human.


DHE4_HUMAN Glutamate dehydrogenase 2, mitochondrial (sprot)

A glutamate dehydrogenase 2, mitochondrial that is encoded in the genome of human.


TGM2_HUMAN Protein-glutamine gamma-glutamyltransferase 2 (sprot)

A protein-glutamine gamma-glutamyltransferase 2 that is encoded in the genome of human.


PADI6_HUMAN Protein-arginine deiminase type-6 (sprot)

A protein-arginine deiminase type-6 that is encoded in the genome of human.


GLNA_HUMAN Glutamine synthetase (sprot)

A glutamine synthetase that is encoded in the genome of human.


F13A_HUMAN Coagulation factor XIII A chain (sprot)

A coagulation factor XIII A chain that is encoded in the genome of human.


PADI4_HUMAN Protein-arginine deiminase type-4 (sprot)

A protein-arginine deiminase type-4 that is encoded in the genome of human.


PNPO_HUMAN Pyridoxine-5'-phosphate oxidase (sprot)

A pyridoxine-5'-phosphate oxidase that is encoded in the genome of human.


GLSL_HUMAN Glutaminase liver isoform, mitochondrial (sprot)

A glutaminase liver isoform, mitochondrial that is encoded in the genome of human.


PYRG1_HUMAN CTP synthase 1 (sprot)

A CTP synthase 1 that is encoded in the genome of human.


PADI3_HUMAN Protein-arginine deiminase type-3 (sprot)

A protein-arginine deiminase type-3 that is encoded in the genome of human.


GMPR2_HUMAN GMP reductase 2 (sprot)

A GMP reductase 2 that is encoded in the genome of human.


TGM5_HUMAN Protein-glutamine gamma-glutamyltransferase 5 (sprot)

A protein-glutamine gamma-glutamyltransferase 5 that is encoded in the genome of human.


GLSK_HUMAN Glutaminase kidney isoform, mitochondrial (sprot)

A glutaminase kidney isoform, mitochondrial that is encoded in the genome of human.


TGM4_HUMAN Protein-glutamine gamma-glutamyltransferase 4 (sprot)

A protein-glutamine gamma-glutamyltransferase 4 that is encoded in the genome of human.


TGM1_HUMAN Protein-glutamine gamma-glutamyltransferase K (sprot)

A protein-glutamine gamma-glutamyltransferase K that is encoded in the genome of human.


HUTH_HUMAN Histidine ammonia-lyase (sprot)

A histidine ammonia-lyase that is encoded in the genome of human.


PADI2_HUMAN Protein-arginine deiminase type-2 (sprot)

A protein-arginine deiminase type-2 that is encoded in the genome of human.


GMPR1_HUMAN GMP reductase 1 (sprot)

A GMP reductase 1 that is encoded in the genome of human.


A formimidoyltransferase-cyclodeaminase that is encoded in the genome of human.


PADI1_HUMAN Protein-arginine deiminase type-1 (sprot)

A protein-arginine deiminase type-1 that is encoded in the genome of human.


GCST_HUMAN Aminomethyltransferase, mitochondrial (sprot)

An aminomethyltransferase, mitochondrial that is encoded in the genome of human.


GUAD_HUMAN Guanine deaminase (sprot)

A guanine deaminase that is encoded in the genome of human.


TGM3L_HUMAN Protein-glutamine gamma-glutamyltransferase 6 (sprot)

A protein-glutamine gamma-glutamyltransferase 6 that is encoded in the genome of human.


QPCT_HUMAN Glutaminyl-peptide cyclotransferase (sprot)

A glutaminyl-peptide cyclotransferase that is encoded in the genome of human.


TGM7_HUMAN Protein-glutamine gamma-glutamyltransferase Z (sprot)

A protein-glutamine gamma-glutamyltransferase Z that is encoded in the genome of human.


DHE3_HUMAN Glutamate dehydrogenase 1, mitochondrial (sprot)

A glutamate dehydrogenase 1, mitochondrial that is encoded in the genome of human.


LYOX_HUMAN Protein-lysine 6-oxidase (sprot)

A protein-lysine 6-oxidase that is encoded in the genome of human.


RHAG_HUMAN Ammonium transporter Rh type A (sprot)

An ammonium transporter Rh type A that is encoded in the genome of human.


FAAH1_HUMAN Fatty-acid amide hydrolase 1 (sprot)

A fatty-acid amide hydrolase 1 that is encoded in the genome of human.


GCSH_HUMAN Glycine cleavage system H protein, mitochondrial (sprot)

A glycine cleavage system H protein, mitochondrial that is encoded in the genome of human.


PYR1_HUMAN CAD protein (sprot)

A CAD protein that is encoded in the genome of human.


ASGL1_HUMAN Isoaspartyl peptidase/L-asparaginase (sprot)

An L-asparaginase that is encoded in the genome of human.


AT2L1_HUMAN Ethanolamine-phosphate phospho-lyase (sprot)

An ethanolamine-phosphate phospho-lyase that is encoded in the genome of human.


PYRG2_HUMAN CTP synthase 2 (sprot)

A CTP synthase 2 that is encoded in the genome of human.


SCLY_HUMAN Selenocysteine lyase (sprot)

A selenocysteine lyase that is encoded in the genome of human.


A8YXX4_HUMAN Glutamine synthetase (trembl)


LOXL2_HUMAN Lysyl oxidase homolog 2 (sprot)

A lysyl oxidase homolog 2 that is encoded in the genome of human.


OXLA_HUMAN L-amino-acid oxidase (sprot)

An L-amino-acid oxidase that is encoded in the genome of human.


ASPDH_HUMAN Aspartate dehydrogenase domain-containing protein (sprot)

An aspartate dehydrogenase domain-containing protein that is encoded in the genome of human.


AT2L2_HUMAN 5-phosphohydroxy-L-lysine phospho-lyase (sprot)

An alanine--glyoxylate aminotransferase 2-like 2 that is encoded in the genome of human.


KAT3_HUMAN Kynurenine--oxoglutarate transaminase 3 (sprot)

A kynurenine--oxoglutarate transaminase 3 that is encoded in the genome of human.


SRR_HUMAN Serine racemase (sprot)

A serine racemase that is encoded in the genome of human.


FAAH2_HUMAN Fatty-acid amide hydrolase 2 (sprot)

A fatty-acid amide hydrolase 2 that is encoded in the genome of human.


GNPI2_HUMAN Glucosamine-6-phosphate isomerase 2 (sprot)

A glucosamine-6-phosphate isomerase 2 that is encoded in the genome of human.


ABC3H_HUMAN DNA dC->dU-editing enzyme APOBEC-3H (sprot)

A DNA dC->dU-editing enzyme APOBEC-3H that is encoded in the genome of human.


RHCG_HUMAN Ammonium transporter Rh type C (sprot)

An ammonium transporter Rh type C that is encoded in the genome of human.


RHBG_HUMAN Ammonium transporter Rh type B (sprot)

An ammonium transporter Rh type B that is encoded in the genome of human.


ADAT1_HUMAN tRNA-specific adenosine deaminase 1 (sprot)

A tRNA-specific adenosine deaminase 1 that is encoded in the genome of human.


ABC3A_HUMAN DNA dC->dU-editing enzyme APOBEC-3A (sprot)

A DNA dC->dU-editing enzyme APOBEC-3A that is encoded in the genome of human.


ABC3B_HUMAN DNA dC->dU-editing enzyme APOBEC-3B (sprot)

A DNA dC->dU-editing enzyme APOBEC-3B that is encoded in the genome of human.


ABC3C_HUMAN DNA dC->dU-editing enzyme APOBEC-3C (sprot)

A DNA dC->dU-editing enzyme APOBEC-3C that is encoded in the genome of human.


ABC3D_HUMAN DNA dC->dU-editing enzyme APOBEC-3D (sprot)

A DNA dC->dU-editing enzyme APOBEC-3D that is encoded in the genome of human.


ABC3F_HUMAN DNA dC->dU-editing enzyme APOBEC-3F (sprot)

A DNA dC->dU-editing enzyme APOBEC-3F that is encoded in the genome of human.


AICDA_HUMAN Single-stranded DNA cytosine deaminase (sprot)

A single-stranded DNA cytosine deaminase that is encoded in the genome of human.


DPH6_HUMAN Diphthine--ammonia ligase (sprot)

A diphthine--ammonia ligase that is encoded in the genome of human.


NIT2_HUMAN Omega-amidase NIT2 (sprot)

An omega-amidase NIT2 that is encoded in the genome of human.


QPCTL_HUMAN Glutaminyl-peptide cyclotransferase-like protein (sprot)

A glutaminyl-peptide cyclotransferase-like protein that is encoded in the genome of human.


Ammonia

An azane that consists of a single nitrogen atom covelently bonded to three hydrogen atoms.


hyperargininemia

Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.


ARLY_HUMAN Argininosuccinate lyase (sprot)

An argininosuccinate lyase that is encoded in the genome of human.


CHPT1_HUMAN Cholinephosphotransferase 1 (sprot)

A cholinephosphotransferase 1 that is encoded in the genome of human.


Q5T6L4_HUMAN Argininosuccinate synthase (trembl)


17-beta Hydroxysteroid Dehydrogenase III Deficiency,Disease


Androgen and Estrogen Metabolism,Metabolic


polycystic ovary syndrome

A disorder that manifests as multiple cysts on the ovaries. It results in hormonal imbalances and leads to irregular and abnormal menstrual periods, excess growth of hair, acne eruptions and obesity.


classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

The most common form of congenital adrenal hyperplasia (CAH), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia.


recessive X-linked ichthyosis

A genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin.


ovarian cancer

A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas.


DHB2_HUMAN 17-beta-hydroxysteroid dehydrogenase type 2 (sprot)

A 17-beta-hydroxysteroid dehydrogenase type 2 that is encoded in the genome of human.


DHB8_HUMAN (3R)-3-hydroxyacyl-CoA dehydrogenase (sprot)

A (3R)-3-hydroxyacyl-CoA dehydrogenase that is encoded in the genome of human.


S5A2_HUMAN 3-oxo-5-alpha-steroid 4-dehydrogenase 2 (sprot)

A 3-oxo-5-alpha-steroid 4-dehydrogenase 2 that is encoded in the genome of human.


S5A1_HUMAN 3-oxo-5-alpha-steroid 4-dehydrogenase 1 (sprot)

A 3-oxo-5-alpha-steroid 4-dehydrogenase 1 that is encoded in the genome of human.


DHB3_HUMAN 17-beta-hydroxysteroid dehydrogenase type 3 (sprot)

A 17-beta-hydroxysteroid dehydrogenase type 3 that is encoded in the genome of human.


CP3A4_HUMAN Cytochrome P450 3A4 (sprot)

A cytochrome P450 3A4 that is encoded in the genome of human.


CP2C9_HUMAN Cytochrome P450 2C9 (sprot)

A cytochrome P450 2C9 that is encoded in the genome of human.


CP2CJ_HUMAN Cytochrome P450 2C19 (sprot)

A cytochrome P450 2C19 that is encoded in the genome of human.


CP2E1_HUMAN Cytochrome P450 2E1 (sprot)

A cytochrome P450 2E1 that is encoded in the genome of human.


CP343_HUMAN Cytochrome P450 3A43 (sprot)

A cytochrome P450 3A43 that is encoded in the genome of human.


CP2CI_HUMAN Cytochrome P450 2C18 (sprot)

A cytochrome P450 2C18 that is encoded in the genome of human.


CP2F1_HUMAN Cytochrome P450 2F1 (sprot)

A cytochrome P450 2F1 that is encoded in the genome of human.


CP4X1_HUMAN Cytochrome P450 4X1 (sprot)

A cytochrome P450 4X1 that is encoded in the genome of human.


CP2B6_HUMAN Cytochrome P450 2B6 (sprot)

A cytochrome P450 2B6 that is encoded in the genome of human.


CP3A5_HUMAN Cytochrome P450 3A5 (sprot)

A cytochrome P450 3A5 that is encoded in the genome of human.


CP2AD_HUMAN Cytochrome P450 2A13 (sprot)

A cytochrome P450 2A that is a translation product of the CYP2A13 gene in human.


CP3A7_HUMAN Cytochrome P450 3A7 (sprot)

A cytochrome P450 3A7 that is encoded in the genome of human.


CP4B1_HUMAN Cytochrome P450 4B1 (sprot)

A cytochrome P450 4B1 that is encoded in the genome of human.


CP4Z1_HUMAN Cytochrome P450 4Z1 (sprot)

A cytochrome P450 4Z1 that is encoded in the genome of human.


CP1A2_HUMAN Cytochrome P450 1A2 (sprot)

A cytochrome P450 1A2 that is encoded in the genome of human.


CP19A_HUMAN Aromatase (sprot)

An aromatase that is encoded in the genome of human.


CP2C8_HUMAN Cytochrome P450 2C8 (sprot)

A cytochrome P450 2C8 that is encoded in the genome of human.


CP2S1_HUMAN Cytochrome P450 2S1 (sprot)

A cytochrome P450 2S1 that is encoded in the genome of human.


CP2J2_HUMAN Cytochrome P450 2J2 (sprot)

A cytochrome P450 2J2 that is encoded in the genome of human.


CP2A7_HUMAN Cytochrome P450 2A7 (sprot)

A cytochrome P450 2A that is a translation product of the CYP2A7 gene in human.


CP2A6_HUMAN Cytochrome P450 2A6 (sprot)

A cytochrome P450 2A that is a translation product of the CYP2A6 gene in human.


LEP_HUMAN Leptin (sprot)

A leptin that is encoded in the genome of human.


H17B6_HUMAN 17-beta-hydroxysteroid dehydrogenase type 6 (sprot)

A 17-beta-hydroxysteroid dehydrogenase type 6 that is encoded in the genome of human.


A0N0X8_HUMAN Cytochrome P450 1A (trembl)


Q8TDD0_HUMAN steroid 11beta-monooxygenase (trembl)


Q1HB44_HUMAN Cytochrome P450, family 17, subfamily A, polypeptide 1 (trembl)


PORED_HUMAN Polyprenol reductase (sprot)

A polyprenol reductase that is encoded in the genome of human.


Androstenedione

A 3-oxo Delta(4)-steroid that is androst-4-ene substituted by oxo groups at positions 3 and 17. It is a steroid hormone synthesized in the adrenal glands and gonads.


Crigler-Najjar syndrome type 1

Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS, a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT).


renal hypomagnesemia 3

Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure.


congenital dyserythropoietic anemia type 2

Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones.


anemia, nonspherocytic hemolytic, due to G6PD deficiency

An X-linked genetic condition caused by alterations in the gene G6PD that result in severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Individuals with hemizygous G6PD variants associated with CNSHA have CNSHA. Individuals with G6PD variants that cause CNSHA are at risk for acute hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans.


progressive familial intrahepatic cholestasis type 1

PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features.


Donohue syndrome

Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome) characterized by intrauterine and mainly postnatal severe growth retardation.


neonatal intrahepatic cholestasis due to citrin deficiency

Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia.


congenital bile acid synthesis defect 1

Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption.


Norum disease

A form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme.


Wolcott-Rallison syndrome

Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.


HMOX1_HUMAN Heme oxygenase 1 (sprot)

A heme oxygenase 1 that is encoded in the genome of human.


BIEA_HUMAN Biliverdin reductase A (sprot)

A biliverdin reductase A that is encoded in the genome of human.


BLVRB_HUMAN Flavin reductase (NADPH) (sprot)

A flavin reductase that is encoded in the genome of human.


ALBU_HUMAN Albumin (sprot)

An albumin that is encoded in the genome of human.


FETA_HUMAN Alpha-fetoprotein (sprot)

An alpha-fetoprotein that is encoded in the genome of human.


Bilirubin

A member of the class of  biladienes that is a linear tetrapyrrole with the dipyrrole units being of both exovinyl and endovinyl type. A product of heme degradation, it is produced in the reticuloendothelial system by the reduction of biliverdin and transported to the liver as a complex with serum albumin.


GLU2B_HUMAN Glucosidase 2 subunit beta (sprot)

A glucosidase 2 subunit beta that is encoded in the genome of human.


GBA3_HUMAN Cytosolic beta-glucosidase (sprot)

A cytosolic beta-glucosidase that is encoded in the genome of human.


D-(+)-Cellobiose

A cellobiose with beta configuration at the reducing-end glucose residue.


GABA aminotransaminase deficiency

Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an extremely rare disorder of GABA metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration.


hyper-beta-alaninemia

Hyperbetaalaninemia is a very rare metabolic condition.Hyperbetaalaninemia refers to thebuild-upof protein building blocks, called beta amino acids, in the body. The excess beta amino acidsare neurotoxic to the body. Signs and symptoms of hyperbetaalaninemia includeconvulsions (rapid and uncontrollable shaking), lethargy, and encephalopathy.Hyperbetaalaninemia is thought to be due to a loss ofa functional form of the enzyme,beta-alanine-alpha-ketoglutarate transaminase.Treatment with oral pyridoxine wasdemonstrated to be helpful in one case.


methylmalonate semialdehyde dehydrogenase deficiency


Dihydropyrimidine dehydrogenase (DPD) deficiency isaconditionin which the body cannot break down the nucleotides thymine and uracil. DPD deficiency can have a wide range of severity; some individuals may have various neurological problems, while others have no signsand symptoms. Signs and symptoms in severely affected individuals begin in infancy and may include seizures, intellectual disability, microcephaly, increased muscle tone (hypertonia), delayed motor skills, and autistic behavior. All individuals with the condition, regardless of the presence or severity of symptoms, are at risk for severe, toxic reactions to drugs called fluoropyrimidines which are used to treat cancer. Individuals with no symptoms may be diagnosed only by laboratory testing or after exposure to fluoropyrimidines. DPD deficiency is caused by mutations in the DPYD gene and is inherited in an autosomal recessive manner.


GABT_HUMAN 4-aminobutyrate aminotransferase, mitochondrial (sprot)

A 4-aminobutyrate aminotransferase, mitochondrial that is encoded in the genome of human.


DCE2_HUMAN Glutamate decarboxylase 2 (sprot)

A glutamate decarboxylase 2 that is encoded in the genome of human.


DCE1_HUMAN Glutamate decarboxylase 1 (sprot)

A glutamate decarboxylase 1 that is encoded in the genome of human.


SC6A6_HUMAN Sodium- and chloride-dependent taurine transporter (sprot)

A sodium- and chloride-dependent taurine transporter that is encoded in the genome of human.


MOT10_HUMAN Monocarboxylate transporter 10 (sprot)

A monocarboxylate transporter 10 that is encoded in the genome of human.


beta-Alanine

A naturally-occurring beta-amino acid comprising propionic acid with the amino group in the 3-position.


Corticotropin Activation of Cortisol Production,Protein


Dopamine Activation of Neurological Reward System,Signaling


Excitatory Neural Signalling Through 5-HTR 4 and Serotonin,Protein


Excitatory Neural Signalling Through 5-HTR 6 and Serotonin,Protein,The 5-HT6 receptor is primarily expressed in the brain and is involved in glutamatergic and cholinergic neuronal activity.  The 5-HT6 receptor activates G(s) proteins which lead to the activation of adenylyl cyclase which produces the secondary messenger cAMP. cAMP activates PKA (protein kinase A) which phosphorylates downstream effectors that lead to a specific cellular response.


Excitatory Neural Signalling Through 5-HTR 7 and Serotonin,Protein


Intracellular Signalling Through FSH Receptor and Follicle Stimulating Hormone,Protein


Intracellular Signalling Through Histamine H2 Receptor and Histamine,Signaling


Intracellular Signalling Through LHCGR Receptor and Luteinizing Hormone/Choriogonadotropin,Protein


Intracellular Signalling Through PGD2 receptor and Prostaglandin D2,Signaling,PGD is the major prostanoid released from human mast cells upon immunological challenge. Prostaglandin D2 (PGD2) can trigger asthmatic responses by acting as a cell-derived mediator in mice. The PGD receptor activates G(s) proteins which lead to the activation of adenylyl cyclase which produces the secondary messenger cAMP. cAMP activates PKA (protein kinase A) which phosphorylates downstream effectors that lead to a specific cellular response.


Intracellular Signalling Through Prostacyclin Receptor and Prostacyclin,Signaling


Lysophosphatidic Acid LPA1 Signalling,Protein


Lysophosphatidic Acid LPA2 Signalling,Protein


Lysophosphatidic Acid LPA3 Signalling,Protein


Lysophosphatidic Acid LPA4 Signalling,Protein


Lysophosphatidic Acid LPA5 Signalling,Protein


Lysophosphatidic Acid LPA6 Signalling,Protein


Vasopressin Regulation of Water Homeostasis,Protein


Guillain-Barre syndrome, familial

A form of Guillain-Barre syndrome (GBS) that occurs in persons or families with a genetic predisposition to the acute or chronic forms of GBS. Note that GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors, and families with clear Mendelian inheritance have been rarely reported: a mutation in the PMP22 gene (601097) on chromosome 17 was identified in a single family with the acute (AIDP) and chronic (CIDP) forms of inflammatory demyelinating polyneuropathy.


EP300_HUMAN Histone acetyltransferase p300 (sprot)

A histone acetyltransferase p300 that is encoded in the genome of human.


CBP_HUMAN CREB-binding protein (sprot)

A CREB-binding protein that is encoded in the genome of human.


LIPS_HUMAN Hormone-sensitive lipase (sprot)

A hormone-sensitive lipase that is encoded in the genome of human.


ADCY7_HUMAN Adenylate cyclase type 7 (sprot)

An adenylate cyclase type 7 that is encoded in the genome of human.


ADCY4_HUMAN Adenylate cyclase type 4 (sprot)

An adenylate cyclase type 4 that is encoded in the genome of human.


ADCY6_HUMAN Adenylate cyclase type 6 (sprot)

An adenylate cyclase type 6 that is encoded in the genome of human.


ADCY5_HUMAN Adenylate cyclase type 5 (sprot)

An adenylate cyclase type 5 that is encoded in the genome of human.


ADCY8_HUMAN Adenylate cyclase type 8 (sprot)

An adenylate cyclase type 8 that is encoded in the genome of human.


ADCY9_HUMAN Adenylate cyclase type 9 (sprot)

An adenylate cyclase type 9 that is encoded in the genome of human.


ADCY3_HUMAN Adenylate cyclase type 3 (sprot)

An adenylate cyclase type 3 that is encoded in the genome of human.


ADCY2_HUMAN Adenylate cyclase type 2 (sprot)

An adenylate cyclase type 2 that is encoded in the genome of human.


CNGA3_HUMAN Cyclic nucleotide-gated cation channel alpha-3 (sprot)

A cyclic nucleotide-gated cation channel alpha-3 that is encoded in the genome of human.


CNGB3_HUMAN Cyclic nucleotide-gated cation channel beta-3 (sprot)

A cyclic nucleotide-gated cation channel beta-3 that is encoded in the genome of human.


RPGF2_HUMAN Rap guanine nucleotide exchange factor 2 (sprot)

A Rap guanine nucleotide exchange factor 2 that is encoded in the genome of human.


HCN1_HUMAN Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1 (sprot)

A potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1 that is encoded in the genome of human.


KAPCG_HUMAN cAMP-dependent protein kinase catalytic subunit gamma (sprot)

A cAMP-dependent protein kinase catalytic subunit gamma that is encoded in the genome of human.


KAPCA_HUMAN cAMP-dependent protein kinase catalytic subunit alpha (sprot)

A cAMP-dependent protein kinase catalytic subunit alpha that is encoded in the genome of human.


PRKY_HUMAN Putative serine/threonine-protein kinase PRKY (sprot)

A putative serine/threonine-protein kinase PRKY that is encoded in the genome of human.


KAPCB_HUMAN cAMP-dependent protein kinase catalytic subunit beta (sprot)

A cAMP-dependent protein kinase catalytic subunit beta that is encoded in the genome of human.


KS6A5_HUMAN Ribosomal protein S6 kinase alpha-5 (sprot)

A ribosomal protein S6 kinase alpha-5 that is encoded in the genome of human.


PRKX_HUMAN cAMP-dependent protein kinase catalytic subunit PRKX (sprot)

A serine/threonine-protein kinase PRKX that is encoded in the genome of human.


STK11_HUMAN Serine/threonine-protein kinase STK11 (sprot)

A serine/threonine-protein kinase STK11 that is encoded in the genome of human.


ABCA1_HUMAN Phospholipid-transporting ATPase ABCA1 (sprot)

A phospholipid-transporting ATPase ABCA1 that is encoded in the genome of human.


NHRF1_HUMAN Na(+)/H(+) exchange regulatory cofactor NHE-RF1 (sprot)

A Na(+)/H(+) exchange regulatory cofactor NHE-RF1 that is encoded in the genome of human.


AHR_HUMAN Aryl hydrocarbon receptor (sprot)

An aryl hydrocarbon receptor that is encoded in the genome of human.


CREB5_HUMAN Cyclic AMP-responsive element-binding protein 5 (sprot)

A cyclic AMP-responsive element-binding protein 5 that is encoded in the genome of human.


BHE40_HUMAN Class E basic helix-loop-helix protein 40 (sprot)

A class E basic helix-loop-helix protein 40 that is encoded in the genome of human.


SFPQ_HUMAN Splicing factor, proline- and glutamine-rich (sprot)

A splicing factor, proline- and glutamine-rich that is encoded in the genome of human.


RAP1A_HUMAN Ras-related protein Rap-1A (sprot)

A Ras-related protein Rap-1A that is encoded in the genome of human.


CALCA_HUMAN Calcitonin gene-related peptide 1 (sprot)


TSHR_HUMAN Thyrotropin receptor (sprot)

A thyrotropin receptor that is encoded in the genome of human.


GDNF_HUMAN Glial cell line-derived neurotrophic factor (sprot)

A glial cell line-derived neurotrophic factor that is encoded in the genome of human.


KCNH2_HUMAN Potassium voltage-gated channel subfamily H member 2 (sprot)

A voltage-gated potassium channel KCNH2 that is encoded in the genome of human.


KCNH6_HUMAN Potassium voltage-gated channel subfamily H member 6 (sprot)

A voltage-gated potassium channel KCNH6 that is encoded in the genome of human.


MBD2_HUMAN Methyl-CpG-binding domain protein 2 (sprot)

A methyl-CpG-binding domain protein 2 that is encoded in the genome of human.


RXFP1_HUMAN Relaxin receptor 1 (sprot)

A relaxin receptor 1 that is encoded in the genome of human.


CREM_HUMAN cAMP-responsive element modulator (sprot)

A cAMP-responsive element modulator that is encoded in the genome of human.


ADIPO_HUMAN Adiponectin (sprot)

An adiponectin that is encoded in the genome of human.


KAP0_HUMAN cAMP-dependent protein kinase type I-alpha regulatory subunit (sprot)

A cAMP-dependent protein kinase type I-alpha regulatory subunit that is encoded in the genome of human.


HCN2_HUMAN Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 2 (sprot)

A potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 2 that is encoded in the genome of human.


CORT_HUMAN Cortistatin (sprot)

A cortistatin that is encoded in the genome of human.


PLIN1_HUMAN Perilipin-1 (sprot)

A perilipin-1 that is encoded in the genome of human.


PD2R_HUMAN Prostaglandin D2 receptor (sprot)

A prostaglandin D2 receptor that is encoded in the genome of human.


RPGF3_HUMAN Rap guanine nucleotide exchange factor 3 (sprot)

A Rap guanine nucleotide exchange factor 3 that is encoded in the genome of human.


CXCL7_HUMAN Platelet basic protein (sprot)

A platelet basic protein that is encoded in the genome of human.


VASP_HUMAN Vasodilator-stimulated phosphoprotein (sprot)

A vasodilator-stimulated phosphoprotein that is encoded in the genome of human.


ITPR1_HUMAN Inositol 1,4,5-trisphosphate receptor type 1 (sprot)

An inositol 1,4,5-trisphosphate receptor type 1 that is encoded in the genome of human.


RPGF4_HUMAN Rap guanine nucleotide exchange factor 4 (sprot)

A Rap guanine nucleotide exchange factor 4 that is encoded in the genome of human.


STF1_HUMAN Steroidogenic factor 1 (sprot)

A steroidogenic factor 1 that is encoded in the genome of human.


S4A7_HUMAN Sodium bicarbonate cotransporter 3 (sprot)

A sodium bicarbonate cotransporter 3 that is encoded in the genome of human.


MRP5_HUMAN ATP-binding cassette sub-family C member 5 (sprot)

An ATP-binding cassette sub-family C member 5 that is encoded in the genome of human.


ADCYA_HUMAN Adenylate cyclase type 10 (sprot)

An adenylate cyclase type 10 that is encoded in the genome of human.


PLCD3_HUMAN 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3 (sprot)

A 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3 that is encoded in the genome of human.


LPAR6_HUMAN Lysophosphatidic acid receptor 6 (sprot)

An oleoyl-L-alpha-lysophosphatidic acid receptor that is encoded in the genome of human.


AKA7A_HUMAN A-kinase anchor protein 7 isoforms alpha and beta (sprot)

An A-kinase anchor protein 7 (human), isoforms beta and alpha.


AKP13_HUMAN A-kinase anchor protein 13 (sprot)

An A-kinase anchor protein 13 that is encoded in the genome of human.


CNGA4_HUMAN Cyclic nucleotide-gated cation channel alpha-4 (sprot)

A cyclic nucleotide-gated cation channel alpha-4 that is encoded in the genome of human.


CRTC1_HUMAN CREB-regulated transcription coactivator 1 (sprot)

A CREB-regulated transcription coactivator 1 that is encoded in the genome of human.


CRTC2_HUMAN CREB-regulated transcription coactivator 2 (sprot)

A CREB-regulated transcription coactivator 2 that is encoded in the genome of human.


GNAT3_HUMAN Guanine nucleotide-binding protein G(t) subunit alpha-3 (sprot)

A guanine nucleotide-binding protein G(t) subunit alpha-3 that is encoded in the genome of human.


PPR1A_HUMAN Protein phosphatase 1 regulatory subunit 1A (sprot)

A protein phosphatase 1 regulatory subunit 1A that is encoded in the genome of human.


TRPV2_HUMAN Transient receptor potential cation channel subfamily V member 2 (sprot)

A transient receptor potential cation channel TRPV2 that is encoded in the genome of human.


ADM2_HUMAN Protein ADM2 (sprot)

A protein ADM2 that is encoded in the genome of human.


AKA7G_HUMAN A-kinase anchor protein 7 isoform gamma (sprot)


AKAP2_HUMAN A-kinase anchor protein 2 (sprot)

An A-kinase anchor protein 2 that is encoded in the genome of human.


AKAP5_HUMAN A-kinase anchor protein 5 (sprot)

An A-kinase anchor protein 5 that is encoded in the genome of human.


AKAP8_HUMAN A-kinase anchor protein 8 (sprot)

An A-kinase anchor protein 8 that is encoded in the genome of human.


ASIP_HUMAN Agouti-signaling protein (sprot)

An agouti-signaling protein that is encoded in the genome of human.


ATF1_HUMAN Cyclic AMP-dependent transcription factor ATF-1 (sprot)

A cyclic AMP-dependent transcription factor ATF-1 that is encoded in the genome of human.


ATF2_HUMAN Cyclic AMP-dependent transcription factor ATF-2 (sprot)

A cyclic AMP-dependent transcription factor ATF-2 that is encoded in the genome of human.


ATF3_HUMAN Cyclic AMP-dependent transcription factor ATF-3 (sprot)

A cyclic AMP-dependent transcription factor ATF-3 that is encoded in the genome of human.


ATF4_HUMAN Cyclic AMP-dependent transcription factor ATF-4 (sprot)

A cyclic AMP-dependent transcription factor ATF-4 that is encoded in the genome of human.


ATF5_HUMAN Cyclic AMP-dependent transcription factor ATF-5 (sprot)

A cyclic AMP-dependent transcription factor ATF-5 that is encoded in the genome of human.


ATF7_HUMAN Cyclic AMP-dependent transcription factor ATF-7 (sprot)

A cyclic AMP-dependent transcription factor ATF-7 that is encoded in the genome of human.


BATF_HUMAN Basic leucine zipper transcriptional factor ATF-like (sprot)

A basic leucine zipper transcriptional factor ATF-like that is encoded in the genome of human.


CNGA2_HUMAN Cyclic nucleotide-gated olfactory channel (sprot)

A cyclic nucleotide-gated olfactory channel that is encoded in the genome of human.


CR3L1_HUMAN Cyclic AMP-responsive element-binding protein 3-like protein 1 (sprot)

A cyclic AMP-responsive element-binding protein 3-like protein 1 that is encoded in the genome of human.


CR3L2_HUMAN Cyclic AMP-responsive element-binding protein 3-like protein 2 (sprot)

A cyclic AMP-responsive element-binding protein 3-like protein 2 that is encoded in the genome of human.


CR3L3_HUMAN Cyclic AMP-responsive element-binding protein 3-like protein 3 (sprot)

A cyclic AMP-responsive element-binding protein 3-like protein 3 that is encoded in the genome of human.


CREB3_HUMAN Cyclic AMP-responsive element-binding protein 3 (sprot)

A cyclic AMP-responsive element-binding protein 3 that is encoded in the genome of human.


LC7L3_HUMAN Luc7-like protein 3 (sprot)

A cisplatin resistance-associated overexpressed protein that is encoded in the genome of human.


CRTC3_HUMAN CREB-regulated transcription coactivator 3 (sprot)

A CREB-regulated transcription coactivator 3 that is encoded in the genome of human.


DEMA_HUMAN Dematin (sprot)

A dematin that is encoded in the genome of human.


EPB42_HUMAN Protein 4.2 (sprot)

A protein 4.2 that is encoded in the genome of human.


FARP1_HUMAN FERM, ARHGEF and pleckstrin domain-containing protein 1 (sprot)

A FERM, ARHGEF and pleckstrin domain-containing protein 1 that is encoded in the genome of human.


GPBAR_HUMAN G-protein coupled bile acid receptor 1 (sprot)

A G-protein coupled bile acid receptor 1 that is encoded in the genome of human.


GPHA2_HUMAN Glycoprotein hormone alpha-2 (sprot)

A glycoprotein hormone alpha-2 that is encoded in the genome of human.


GPHB5_HUMAN Glycoprotein hormone beta-5 (sprot)

A glycoprotein hormone beta-5 that is encoded in the genome of human.


HCN4_HUMAN Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4 (sprot)

A potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4 that is encoded in the genome of human.


HRH4_HUMAN Histamine H4 receptor (sprot)

An H4 histamine receptor that is encoded in the genome of human.


IPKA_HUMAN cAMP-dependent protein kinase inhibitor alpha (sprot)

A cAMP-dependent protein kinase inhibitor alpha that is encoded in the genome of human.


IPKB_HUMAN cAMP-dependent protein kinase inhibitor beta (sprot)

A cAMP-dependent protein kinase inhibitor beta that is encoded in the genome of human.


IPKG_HUMAN cAMP-dependent protein kinase inhibitor gamma (sprot)

A cAMP-dependent protein kinase inhibitor gamma that is encoded in the genome of human.


JDP2_HUMAN Jun dimerization protein 2 (sprot)

A Jun dimerization protein 2 that is encoded in the genome of human.


KAP1_HUMAN cAMP-dependent protein kinase type I-beta regulatory subunit (sprot)

A cAMP-dependent protein kinase type I-beta regulatory subunit that is encoded in the genome of human.


KAP2_HUMAN cAMP-dependent protein kinase type II-alpha regulatory subunit (sprot)

A cAMP-dependent protein kinase type II-alpha regulatory subunit that is encoded in the genome of human.


KAP3_HUMAN cAMP-dependent protein kinase type II-beta regulatory subunit (sprot)

A cAMP-dependent protein kinase type II-beta regulatory subunit that is encoded in the genome of human.


KCA10_HUMAN Potassium voltage-gated channel subfamily A member 10 (sprot)

A voltage-gated potassium channel subunit KCNA10 that is encoded in the genome of human.


KCNE3_HUMAN Potassium voltage-gated channel subfamily E member 3 (sprot)

A potassium voltage-gated channel subfamily E member 3 that is encoded in the genome of human.


KCNH1_HUMAN Potassium voltage-gated channel subfamily H member 1 (sprot)

A voltage-gated potassium channel KCNH1 that is encoded in the genome of human.


KCNH3_HUMAN Potassium voltage-gated channel subfamily H member 3 (sprot)

A voltage-gated potassium channel KCNH3 that is encoded in the genome of human.


KCNH4_HUMAN Potassium voltage-gated channel subfamily H member 4 (sprot)

A voltage-gated potassium channel KCNH4 that is encoded in the genome of human.


KCNH5_HUMAN Potassium voltage-gated channel subfamily H member 5 (sprot)

A voltage-gated potassium channel KCNH5 that is encoded in the genome of human.


KCNH7_HUMAN Potassium voltage-gated channel subfamily H member 7 (sprot)

A voltage-gated potassium channel KCNH7 that is encoded in the genome of human.


KCNH8_HUMAN Potassium voltage-gated channel subfamily H member 8 (sprot)

A voltage-gated potassium channel KCNH8 that is encoded in the genome of human.


LZTS1_HUMAN Leucine zipper putative tumor suppressor 1 (sprot)

A leucine zipper putative tumor suppressor 1 that is encoded in the genome of human.


MEIS1_HUMAN Homeobox protein Meis1 (sprot)

A homeobox protein Meis1 that is encoded in the genome of human.


MRGRD_HUMAN Mas-related G-protein coupled receptor member D (sprot)

A Mas-related G-protein coupled receptor D that is encoded in the genome of human.


MRGX2_HUMAN Mas-related G-protein coupled receptor member X2 (sprot)

A Mas-related G-protein coupled receptor X2 that is encoded in the genome of human.


MYOME_HUMAN Myomegalin (sprot)

A myomegalin that is encoded in the genome of human.


NHRF2_HUMAN Na(+)/H(+) exchange regulatory cofactor NHE-RF2 (sprot)

A Na(+)/H(+) exchange regulatory cofactor NHE-RF2 that is encoded in the genome of human.


NONO_HUMAN Non-POU domain-containing octamer-binding protein (sprot)

A non-POU domain-containing octamer-binding protein that is encoded in the genome of human.


PBX1_HUMAN Pre-B-cell leukemia transcription factor 1 (sprot)

A pre-B-cell leukemia transcription factor 1 that is encoded in the genome of human.


PE2R2_HUMAN Prostaglandin E2 receptor EP2 subtype (sprot)

A prostaglandin E2 receptor EP2 subtype that is encoded in the genome of human.


PHOS_HUMAN Phosducin (sprot)

A phosducin that is encoded in the genome of human.


PHX2B_HUMAN Paired mesoderm homeobox protein 2B (sprot)

A paired mesoderm homeobox protein 2B that is encoded in the genome of human.


PLM_HUMAN Phospholemman (sprot)

A phospholemman that is encoded in the genome of human.


PRUN1_HUMAN Exopolyphosphatase PRUNE1 (sprot)

An exopolyphosphatase PRUNE1 that is encoded in the genome of human.


PTN7_HUMAN Tyrosine-protein phosphatase non-receptor type 7 (sprot)

A tyrosine-protein phosphatase non-receptor type 7 that is encoded in the genome of human.


RAP1B_HUMAN Ras-related protein Rap-1b (sprot)

A Ras-related protein Rap-1b that is encoded in the genome of human.


RAP2A_HUMAN Ras-related protein Rap-2a (sprot)

A Ras-related protein Rap-2a that is encoded in the genome of human.


NPVF_HUMAN Pro-FMRFamide-related neuropeptide VF (sprot)

An FMRFamide-related neuropeptide VF that is encoded in the genome of human.


RHPN2_HUMAN Rhophilin-2 (sprot)

A rhophilin-2 that is encoded in the genome of human.


RIC8B_HUMAN Synembryn-B (sprot)

A synembryn-B that is encoded in the genome of human.


RL3R1_HUMAN Relaxin-3 receptor 1 (sprot)

A relaxin-3 receptor 1 that is encoded in the genome of human.


RL3R2_HUMAN Relaxin-3 receptor 2 (sprot)

A relaxin-3 receptor 2 that is encoded in the genome of human.


RP1BL_HUMAN Ras-related protein Rap-1b-like protein (sprot)


RPGF6_HUMAN Rap guanine nucleotide exchange factor 6 (sprot)

A Rap guanine nucleotide exchange factor 6 that is encoded in the genome of human.


RS27_HUMAN Small ribosomal subunit protein eS27 (sprot)

A 40S ribosomal protein S27 that is encoded in the genome of human.


RXFP2_HUMAN Relaxin receptor 2 (sprot)

A relaxin receptor 2 that is encoded in the genome of human.


SO4C1_HUMAN Solute carrier organic anion transporter family member 4C1 (sprot)

A solute carrier organic anion transporter family member 4C1 that is encoded in the genome of human.


SPKAP_HUMAN A-kinase anchor protein SPHKAP (sprot)

An A-kinase anchor protein SPHKAP that is encoded in the genome of human.


SYGP1_HUMAN Ras/Rap GTPase-activating protein SynGAP (sprot)

A Ras/Rap GTPase-activating protein SynGAP that is encoded in the genome of human.


T132A_HUMAN Transmembrane protein 132A (sprot)

A transmembrane protein 132A that is encoded in the genome of human.


HCN3_HUMAN Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 3 (sprot)

A potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 3 that is encoded in the genome of human.


S22A7_HUMAN Solute carrier family 22 member 7 (sprot)

A solute carrier family 22 member 7 that is encoded in the genome of human.


CNGB1_HUMAN Cyclic nucleotide-gated cation channel beta-1 (sprot)

A cyclic nucleotide-gated cation channel beta-1 that is encoded in the genome of human.


Adenosine cyclic phosphate

A 3',5'-cyclic purine nucleotide having having adenine as the nucleobase.


succinyl-CoA:3-ketoacid CoA transferase deficiency

Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis.


encephalopathy due to GLUT1 deficiency

Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation.


SCOT1_HUMAN Succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial (sprot)

A succinyl-CoA:3-ketoacid-coenzyme A transferase 1, mitochondrial that is encoded in the genome of human.


FAAA_HUMAN Fumarylacetoacetase (sprot)

A fumarylacetoacetase that is encoded in the genome of human.


SCOT2_HUMAN Succinyl-CoA:3-ketoacid coenzyme A transferase 2, mitochondrial (sprot)

A succinyl-CoA:3-ketoacid-coenzyme A transferase 2, mitochondrial that is encoded in the genome of human.


HOT_HUMAN Hydroxyacid-oxoacid transhydrogenase, mitochondrial (sprot)

A hydroxyacid-oxoacid transhydrogenase, mitochondrial that is encoded in the genome of human.


HMGC2_HUMAN 3-hydroxy-3-methylglutaryl-CoA lyase, cytoplasmic (sprot)

A 3-hydroxy-3-methylglutaryl-CoA lyase, cytoplasmic that is encoded in the genome of human.


Acetoacetic acid

A 3-oxo monocarboxylic acid that is butyric acid bearing a 3-oxo substituent.


Acetaminophen Metabolism Pathway,Drug Metabolism


Tamoxifen Metabolism Pathway,Drug Metabolism


CHSTB_HUMAN Carbohydrate sulfotransferase 11 (sprot)

A carbohydrate sulfotransferase 11 that is encoded in the genome of human.


CHST3_HUMAN Carbohydrate sulfotransferase 3 (sprot)

A carbohydrate sulfotransferase 3 that is encoded in the genome of human.


CHSTD_HUMAN Carbohydrate sulfotransferase 13 (sprot)

A carbohydrate sulfotransferase 13 that is encoded in the genome of human.


CHSTC_HUMAN Carbohydrate sulfotransferase 12 (sprot)

A carbohydrate sulfotransferase 12 that is encoded in the genome of human.


HS3SB_HUMAN Heparan sulfate glucosamine 3-O-sulfotransferase 3B1 (sprot)

A heparan sulfate glucosamine 3-O-sulfotransferase 3B1 that is encoded in the genome of human.


HS3SA_HUMAN Heparan sulfate glucosamine 3-O-sulfotransferase 3A1 (sprot)

A heparan sulfate glucosamine 3-O-sulfotransferase 3A1 that is encoded in the genome of human.


ST1A1_HUMAN Sulfotransferase 1A1 (sprot)

A sulfotransferase 1A1 that is encoded in the genome of human.


HS3S1_HUMAN Heparan sulfate glucosamine 3-O-sulfotransferase 1 (sprot)

A heparan sulfate glucosamine 3-O-sulfotransferase 1 that is encoded in the genome of human.


ST1E1_HUMAN Sulfotransferase 1E1 (sprot)

A sulfotransferase 1E1 that is encoded in the genome of human.


CHST1_HUMAN Carbohydrate sulfotransferase 1 (sprot)

A carbohydrate sulfotransferase 1 that is encoded in the genome of human.


HS3S4_HUMAN Heparan sulfate glucosamine 3-O-sulfotransferase 4 (sprot)

A heparan sulfate glucosamine 3-O-sulfotransferase 4 that is encoded in the genome of human.


ST1A2_HUMAN Sulfotransferase 1A2 (sprot)

A sulfotransferase 1A2 that is encoded in the genome of human.


HS3S5_HUMAN Heparan sulfate glucosamine 3-O-sulfotransferase 5 (sprot)

A heparan sulfate glucosamine 3-O-sulfotransferase 5 that is encoded in the genome of human.


HS3S2_HUMAN Heparan sulfate glucosamine 3-O-sulfotransferase 2 (sprot)

A heparan sulfate glucosamine 3-O-sulfotransferase 2 that is encoded in the genome of human.


TPST2_HUMAN Protein-tyrosine sulfotransferase 2 (sprot)

A protein-tyrosine sulfotransferase 2 that is encoded in the genome of human.


CHST7_HUMAN Carbohydrate sulfotransferase 7 (sprot)

A carbohydrate sulfotransferase 7 that is encoded in the genome of human.


CHSTE_HUMAN Carbohydrate sulfotransferase 14 (sprot)

A carbohydrate sulfotransferase 14 that is encoded in the genome of human.


H6ST1_HUMAN Heparan-sulfate 6-O-sulfotransferase 1 (sprot)

A heparan-sulfate 6-O-sulfotransferase 1 that is encoded in the genome of human.


H6ST2_HUMAN Heparan-sulfate 6-O-sulfotransferase 2 (sprot)

A heparan-sulfate 6-O-sulfotransferase 2 that is encoded in the genome of human.


H6ST3_HUMAN Heparan-sulfate 6-O-sulfotransferase 3 (sprot)

A heparan-sulfate 6-O-sulfotransferase 3 that is encoded in the genome of human.


CHSTF_HUMAN Carbohydrate sulfotransferase 15 (sprot)

A carbohydrate sulfotransferase 15 that is encoded in the genome of human.


HS3S6_HUMAN Heparan sulfate glucosamine 3-O-sulfotransferase 6 (sprot)

A heparan sulfate glucosamine 3-O-sulfotransferase 6 that is encoded in the genome of human.


NDST1_HUMAN Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 (sprot)

A bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 that is encoded in the genome of human.


NDST2_HUMAN Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 2 (sprot)

A bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 2 that is encoded in the genome of human.


NDST3_HUMAN Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 3 (sprot)

A bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 3 that is encoded in the genome of human.


NDST4_HUMAN Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 4 (sprot)

A bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 4 that is encoded in the genome of human.


ST1C3_HUMAN Sulfotransferase 1C3 (sprot)

A sulfotransferase 1C3 that is encoded in the genome of human.


ST6B1_HUMAN Sulfotransferase 6B1 (sprot)

A sulfotransferase 6B1 that is encoded in the genome of human.


TPST1_HUMAN Protein-tyrosine sulfotransferase 1 (sprot)

A protein-tyrosine sulfotransferase 1 that is encoded in the genome of human.


An adenosine bisphosphate having two monophosphate groups at the 3'- and 5'-positions.


L-2-hydroxyglutaric aciduria

L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy.


progressive encephalopathy with leukodystrophy due to DECR deficiency

Progressive encephalopathy with leukodystrophy due to DECR deficiency is a rare mitochondrial disease, which presents with neonatal hypotonia, central nervous system abnormalities (ventriculomegaly, corpus callosum hypoplasia, cerebellar atrophy), acquired microcephaly, failure to thrive, developmental delay and intermittent lactic acidosis provoked by catabolic stress (e.g. infection). Hyperlysinemia and elevated C10:2 carnitine can be detected in plasma. Later on, epilepsy, cerebellar ataxia, renal tubular acidosis, severe encephalopathy, dystonia, spastic quadriplegia and other complications may develop.


systemic primary carnitine deficiency disease

Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.


oculocerebrorenal syndrome

Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.


CACP_HUMAN Carnitine O-acetyltransferase (sprot)

A carnitine O-acetyltransferase that is encoded in the genome of human.


OCTC_HUMAN Peroxisomal carnitine O-octanoyltransferase (sprot)

A peroxisomal carnitine O-octanoyltransferase that is encoded in the genome of human.


CPT1B_HUMAN Carnitine O-palmitoyltransferase 1, muscle isoform (sprot)

A carnitine O-palmitoyltransferase 1, muscle isoform that is encoded in the genome of human.


CPT1A_HUMAN Carnitine O-palmitoyltransferase 1, liver isoform (sprot)

A carnitine O-palmitoyltransferase 1, liver isoform that is encoded in the genome of human.


CPT2_HUMAN Carnitine O-palmitoyltransferase 2, mitochondrial (sprot)

A carnitine O-palmitoyltransferase 2, mitochondrial that is encoded in the genome of human.


CPT1C_HUMAN Carnitine O-palmitoyltransferase 1, brain isoform (sprot)

A carnitine O-palmitoyltransferase 1, brain isoform that is encoded in the genome of human.


OCTN2_HUMAN Organic cation/carnitine transporter 2 (sprot)

An organic cation/carnitine transporter 2 that is encoded in the genome of human.


S22A4_HUMAN Solute carrier family 22 member 4 (sprot)

A solute carrier family 22 member 4 that is encoded in the genome of human.


MCAT_HUMAN Mitochondrial carnitine/acylcarnitine carrier protein (sprot)

A mitochondrial carnitine/acylcarnitine carrier protein that is encoded in the genome of human.


S22AG_HUMAN Solute carrier family 22 member 16 (sprot)

A solute carrier family 22 member 16 that is encoded in the genome of human.


S2529_HUMAN Mitochondrial basic amino acids transporter (sprot)

A mitochondrial basic amino acids transporter that is encoded in the genome of human.


Levocarnitine

The (R)-enantiomer of carnitine.


congenital isolated adrenocorticotropic hormone deficiency

A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland.


X-linked adrenal hypoplasia congenita

A X-linked condition characterized by underdevelopment of the adrenal gland and adrenal insufficiency caused by mutation(s) in the NR0B1 gene, resulting in decreased activity of the nuclear receptor protein DAX1, which may be associated with hypogonadotropic hypogonadism.


apparent mineralocorticoid excess

Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism.


aromatase deficiency

Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men.


Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis

An autosomal recessive condition caused by mutation(s) in the POR gene, encoding NADPH--cytochrome P450 reductase. It is exceptionally rare, characterized by craniosynostosis, radiohumeral synostosis, genital anomalies, and impaired steroidogenesis.


obesity due to prohormone convertase I deficiency

Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterized by severe childhood obesity, hypoadrenalism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones.


obesity due to congenital leptin deficiency

Congenital leptin deficiency is a form of monogenic obesity characterized by severe early-onset obesity and marked hyperphagia.


DHI2_HUMAN 11-beta-hydroxysteroid dehydrogenase type 2 (sprot)

An 11-beta-hydroxysteroid dehydrogenase type 2 that is encoded in the genome of human.


DHI1_HUMAN 11-beta-hydroxysteroid dehydrogenase 1 (sprot)

An 11-beta-hydroxysteroid dehydrogenase 1 that is encoded in the genome of human.


ANXA1_HUMAN Annexin A1 (sprot)

An annexin A1 that is encoded in the genome of human.


Hydrocortisone

A 17alpha-hydroxy-C21-steroid that is pregn-4-ene substituted by oxo groups at positions 3 and 20 and hydroxy groups at positions 11, 17 and 21. Cortisol is a corticosteroid hormone or glucocorticoid produced by zona fasciculata of the adrenal cortex, which is a part of the adrenal gland. It is usually referred to as the "stress hormone" as it is involved in response to stress and anxiety, controlled by corticotropin-releasing hormone (CRH). It increases blood pressure and blood sugar, and reduces immune responses.


AGAT deficiency

L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy.


cystic fibrosis

Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity.


creatine transporter deficiency

X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.


GAMT_HUMAN Guanidinoacetate N-methyltransferase (sprot)

A guanidinoacetate N-methyltransferase that is encoded in the genome of human.


GATM_HUMAN Glycine amidinotransferase, mitochondrial (sprot)

A glycine amidinotransferase, mitochondrial that is encoded in the genome of human.


KCRS_HUMAN Creatine kinase S-type, mitochondrial (sprot)

A creatine kinase S-type, mitochondrial that is encoded in the genome of human.


KCRB_HUMAN Creatine kinase B-type (sprot)

A creatine kinase B-type that is encoded in the genome of human.


KCRU_HUMAN Creatine kinase U-type, mitochondrial (sprot)

A creatine kinase U-type, mitochondrial that is encoded in the genome of human.


KCRM_HUMAN Creatine kinase M-type (sprot)

A creatine kinase M-type that is encoded in the genome of human.


SC6A8_HUMAN Sodium- and chloride-dependent creatine transporter 1 (sprot)

A sodium- and chloride-dependent creatine transporter 1 that is encoded in the genome of human.


PRRX1_HUMAN Paired mesoderm homeobox protein 1 (sprot)

A paired mesoderm homeobox protein 1 that is encoded in the genome of human.


ID3_HUMAN DNA-binding protein inhibitor ID-3 (sprot)

A DNA-binding protein inhibitor ID-3 that is encoded in the genome of human.


Creatine

A glycine derivative having methyl and amidino groups attached to the nitrogen.


low phospholipid associated cholelithiasis

Low phospholipid associated cholelithiasis is a rare genetic hepatic disease characterized by cholesterol gallstones and intrahepatic stones developing before the age of 40 years.


CDH1-related diffuse gastric and lobular breast cancer syndrome

Germline pathogenic or likely pathogenic variants in the CDH1 gene predispose to hereditary diffuse gastric cancer, a cancer susceptibility syndrome inherited in an autosomal dominant pattern, initially characterized by the increased risk for diffuse gastric cancer (DGC) but subsequently well documented to be associated with lobular breast cancer (LBC) in women.


lysosomal acid lipase deficiency

Lysosomal acid lipase deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease, or 2) a less severe form, cholesteryl ester storage disease, of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis.


ocular cystinosis

Ocular cystinosis is the benign, adult form of cystinosis, a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations.


familial prostate carcinoma

Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma.


familial lipoprotein lipase deficiency

Familial lipoprotein lipase deficiency is a rare genetic disorder is which a person lacks the enzyme lipoprotein lipase, a protein needed to break down fat molecules. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats. This results in the accumulation of fatty droplets called chylomicrons in the blood and an increase in the blood concentration of triglycerides. Symptoms include episodes of abdominal pain, recurrent inflammation of the pancreas (pancreatitis), abnormal enlargement of the liver and/or spleen (hepatosplenomegaly), and the development of skin lesions known as erruptive xanthomas. Familial lipoprotein lipase deficiency is caused by changes (mutations) in the LPL gene. It is inherited in an autosomal recessive pattern. Treatment aims to control symptoms and blood triglyceride levels with a very low-fat diet. Treatment for individual symptoms (i.e. pancreatitis) involves following established treatment guidelines.


abetalipoproteinemia

Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations.


cerebrotendinous xanthomatosis

Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.


hypercholesterolemia, familial, 1

An autosomal dominant inherited disorder characterized by very high levels of low-density lipoprotein cholesterol (LDL-C) and total cholesterol in the blood. It is usually caused by mutations in the LDLR gene which is located on the short arm of chromosome 19.


microcephaly-congenital cataract-psoriasiform dermatitis syndrome


X-linked chondrodysplasia punctata 2

A rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.


desmosterolosis

Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.


Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.


congenital generalized lipodystrophy type 1

Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the AGPAT2 gene.


familial partial lipodystrophy, Kobberling type

Familial partial lipodystrophy, Kobberling type, is a very rare form of familial partial lipodystrophy (FPLD) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant.


LCAT_HUMAN Phosphatidylcholine-sterol acyltransferase (sprot)

A phosphatidylcholine-sterol acyltransferase that is encoded in the genome of human.


LICH_HUMAN Lysosomal acid lipase/cholesteryl ester hydrolase (sprot)

A lysosomal acid lipase/cholesteryl ester hydrolase that is encoded in the genome of human.


STS_HUMAN Steryl-sulfatase (sprot)

A steryl-sulfatase that is encoded in the genome of human.


SOAT2_HUMAN Sterol O-acyltransferase 2 (sprot)

A sterol O-acyltransferase 2 that is encoded in the genome of human.


SOAT1_HUMAN Sterol O-acyltransferase 1 (sprot)

A sterol O-acyltransferase 1 that is encoded in the genome of human.


CP27A_HUMAN Sterol 26-hydroxylase, mitochondrial (sprot)

A cytochrome P450 27, mitochondrial that is encoded in the genome of human.


APOA1_HUMAN Apolipoprotein A-I (sprot)

An apolipoprotein A-I that is encoded in the genome of human.


RORA_HUMAN Nuclear receptor ROR-alpha (sprot)

A nuclear receptor ROR-alpha that is encoded in the genome of human.


CH25H_HUMAN Cholesterol 25-hydroxylase (sprot)

A cholesterol 25-hydroxylase that is encoded in the genome of human.


CP46A_HUMAN Cholesterol 24-hydroxylase (sprot)

A cytochrome P450 46A1 that is encoded in the genome of human.


Cholesterol

A cholestanoid consisting of cholestane having a double bond at the 5,6-position as well as a 3beta-hydroxy group.


chronic primary adrenal insufficiency

A chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones.


pheochromocytoma

Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines.


PNMT_HUMAN Phenylethanolamine N-methyltransferase (sprot)

A phenylethanolamine N-methyltransferase that is encoded in the genome of human.


ADA2A_HUMAN Alpha-2A adrenergic receptor (sprot)

An alpha-2A adrenergic receptor that is encoded in the genome of human.


ADA2B_HUMAN Alpha-2B adrenergic receptor (sprot)

An alpha-2B adrenergic receptor that is encoded in the genome of human.


ADRB1_HUMAN Beta-1 adrenergic receptor (sprot)

A beta-1 adrenergic receptor that is encoded in the genome of human.


ADRB2_HUMAN Beta-2 adrenergic receptor (sprot)

A beta-2 adrenergic receptor that is encoded in the genome of human.


ADA1A_HUMAN Alpha-1A adrenergic receptor (sprot)

An alpha-1A adrenergic receptor that is encoded in the genome of human.


TAAR1_HUMAN Trace amine-associated receptor 1 (sprot)

A trace amine-associated receptor 1 that is encoded in the genome of human.


Epinephrine

The R-enantiomer of adrenaline. It is a hormone secreted by the adrenal glands resulting in the 'fight-or-flight' response.


peroxisome biogenesis disorder type 3B

A genetic disorder characterized by abnormalities in the breakdown of phytanic acid. It results in accumulation of phytanic acid in the blood, brain and other tissues. Signs and symptoms include retinitis pigmentosa which may lead to blindness, hearing problems and deafness, hypotonia, ataxia, nystagmus, facial deformities, and mental and growth retardation.


rhizomelic chondrodysplasia punctata type 1

A condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. The condition is caused by mutations in the PEX7 gene. It is inherited in an autosomal recessive pattern. Rhizomelic chondrodysplasia punctata type 1 is one of five types of rhizomelic chondrodysplasia punctata. The types have similar features and are distinguished by their genetic cause.


adult Refsum disease

A very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues.


pyridoxine-dependent epilepsy caused by ALDH7A1 mutant


d-bifunctional protein deficiency

A genetic disorder that affects the ability of the body to effectively break down fat from our diet. It is typically characterized by hypotonia (low muscle tone) and seizures in the newborn period. Other symptoms include unusual facial features and an enlarged liver (hepatomegaly). Most babies with this condition nevergain anydevelopmental skills and do not survive past the age of 2. DBP deficiency is caused by mutations in the HSD17B4 gene and is inherited in an autosomal recessive manner. Some researchers have suggested classifying DBP deficiency into three subtypes, depending on how severely the mutation in the HSD17B4 gene affects the function of the gene and the protein that it codes for. Almost all individuals with types I, II, and III have similar signs and symptoms. A fourth subtype has additionally been proposed for individuals that have less severe symptoms. While there is no cure for DBP deficiency, treatment is focused on improving nutrition and growth, controlling symptoms, and limiting the progression of liver disease.


peroxisomal acyl-CoA oxidase deficiency

Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.


PLASMODIUM FALCIPARUM BLOOD INFECTION LEVEL


hyperlysinemia

Hyperlysinaemia is a lysine metabolism disorder characterized by elevated levels of lysine in the cerebrospinal fluid and blood. Variable degrees of saccharopinuria are also present.


peroxisome biogenesis disorder 1A (Zellweger)

An autosomal recessive condition caused by mutation(s) in the PEX1 gene, encoding peroxisome biogenesis factor 1. Peroxisome biogenesis disorder 1A manifests phenotypically as Zellweger syndrome.


adrenoleukodystrophy

A peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency.


SOX_HUMAN Peroxisomal sarcosine oxidase (sprot)

A peroxisomal sarcosine oxidase that is encoded in the genome of human.


Pipecolic acid

A piperidinemonocarboxylic acid in which the carboxy group is located at position C-2.


A purine 2'-deoxyribonucleoside that is inosine in which the hydroxy group at position 2' is replaced by a hydrogen.


Amish lethal microcephaly

Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year.


ACON_HUMAN Aconitate hydratase, mitochondrial (sprot)

An aconitate hydratase, mitochondrial that is encoded in the genome of human.


ACOHC_HUMAN Cytoplasmic aconitate hydratase (sprot)

A cytoplasmic aconitate hydratase that is encoded in the genome of human.


cis-Aconitic acid

The cis-isomer of aconitic acid.


3-Methylthiofentanyl Action Pathway,Drug Action


Buprenorphine Action Pathway,Drug Action


Chloroprocaine Action Pathway,Drug Action


Dihydromorphine Action Pathway,Drug Action


Dimethylthiambutene Action Pathway,Drug Action


Diphenoxylate Action Pathway,Drug Action


Ethylmorphine Action Pathway,Drug Action


Hydromorphone Action Pathway,Drug Action


Ketobemidone  Action Pathway,Drug Action


Levobupivacaine Action Pathway,Drug Action


Levomethadyl Acetate Action Action Pathway,Drug Action


Lidocaine (Local Anaesthetic) Action Pathway,Drug Action


Methadyl Acetate Action Pathway,Drug Action


Oxybuprocaine Action Pathway,Drug Action


Tramadol Action Action Pathway,Drug Action


orthostatic hypotension 1

A very rare primary monoamine neurotransmitter synthesis disorder with norepinephrine and adrenaline deficiency that leads to young-onset severe orthostatic hypotension and eyelid ptosis.


vitiligo-associated multiple autoimmune disease susceptibility 6


aromatic L-amino acid decarboxylase deficiency

Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction.


DDC_HUMAN Aromatic-L-amino-acid decarboxylase (sprot)

An aromatic-L-amino-acid decarboxylase that is encoded in the genome of human.


CP2D6_HUMAN Cytochrome P450 2D6 (sprot)

A cytochrome P450 2D6 that is encoded in the genome of human.


DRD2_HUMAN D(2) dopamine receptor (sprot)

A D(2) dopamine receptor that is encoded in the genome of human.


DRD4_HUMAN D(4) dopamine receptor (sprot)

A D(4) dopamine receptor that is encoded in the genome of human.


SC6A3_HUMAN Sodium-dependent dopamine transporter (sprot)

A sodium-dependent dopamine transporter that is encoded in the genome of human.


S22A2_HUMAN Solute carrier family 22 member 2 (sprot)

A solute carrier family 22 member 2 that is encoded in the genome of human.


S22A3_HUMAN Solute carrier family 22 member 3 (sprot)

A solute carrier family 22 member 3 that is encoded in the genome of human.


CALY_HUMAN Neuron-specific vesicular protein calcyon (sprot)

A neuron-specific vesicular protein calcyon that is encoded in the genome of human.


CAPS1_HUMAN Calcium-dependent secretion activator 1 (sprot)

A calcium-dependent secretion activator 1 that is encoded in the genome of human.


CAPS2_HUMAN Calcium-dependent secretion activator 2 (sprot)

A calcium-dependent secretion activator 2 that is encoded in the genome of human.


DRD3_HUMAN D(3) dopamine receptor (sprot)

A D(3) dopamine receptor that is encoded in the genome of human.


DRD1_HUMAN D(1A) dopamine receptor (sprot)

A D(1A) dopamine receptor that is encoded in the genome of human.


DRD5_HUMAN D(1B) dopamine receptor (sprot)

A D(1B) dopamine receptor that is encoded in the genome of human.


Q99586_HUMAN Dopamine D4 receptor (Fragment) (trembl)


Q99587_HUMAN Dopamine D4 receptor (Fragment) (trembl)


Dopamine

Catechol in which the hydrogen at position 4 is substituted by a 2-aminoethyl group.


essential hypertension

Hypertension that presents without an identifiable cause.


DPYD_HUMAN Dihydropyrimidine dehydrogenase [NADP(+)] (sprot)

A dihydropyrimidine dehydrogenase [NADP(+)] that is encoded in the genome of human.


Dihydrouracil

A pyrimidine obtained by formal addition of hydrogen across the 5,6-position of uracil.


Dehydroepiandrosterone

An androstanoid that is androst-5-ene substituted by a beta-hydroxy group at position 3 and an oxo group at position 17. It is a naturally occurring steroid hormone produced by the adrenal glands.


5-Oxoprolinase Deficiency,Disease,5-oxoprolinase deficiency can be caused by heterozygous or homozygous mutation in the OPLAH gene (5-Oxoprolinase).  Patients are relatively asymptomatic but they do exhibit high levels of urinary excretion of 5-oxoproline. Patients also exhibit plasma 5-oxoproline levels of about 0.18 mM or higher.  Patients tend to exhibit transient hypoglycemia.


AMPN_HUMAN Aminopeptidase N (sprot)

An aminopeptidase N that is encoded in the genome of human.


GGT1_HUMAN Glutathione hydrolase 1 proenzyme (sprot)

A glutathione hydrolase 1 proenzyme that is encoded in the genome of human.


GGT7_HUMAN Glutathione hydrolase 7 (sprot)

A glutathione hydrolase 7 that is encoded in the genome of human.


AMPL_HUMAN Cytosol aminopeptidase (sprot)

A cytosol aminopeptidase that is encoded in the genome of human.


GGT6_HUMAN Glutathione hydrolase 6 (sprot)

A glutathione hydrolase 6 that is encoded in the genome of human.


A0PJJ9_HUMAN Glutathione hydrolase (Fragment) (trembl)


GGT5_HUMAN Glutathione hydrolase 5 proenzyme (sprot)

A glutathione hydrolase 5 proenzyme that is encoded in the genome of human.


GGT2_HUMAN Inactive glutathione hydrolase 2 (sprot)

A gamma-glutamyltranspeptidase 2 that is encoded in the genome of human.


GGT3_HUMAN Putative glutathione hydrolase 3 proenzyme (sprot)


Cysteinylglycine

A dipeptide consisting of glycine having an L-cysteinyl attached to its alpha-amino group. It is an intermediate metabolite in glutathione metabolism.


beta-ureidopropionase deficiency

Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal).


Cardiolipin Biosynthesis (Barth Syndrome),Disease


NDKM_HUMAN Nucleoside diphosphate kinase, mitochondrial (sprot)

A nucleoside diphosphate kinase, mitochondrial that is encoded in the genome of human.


NDKA_HUMAN Nucleoside diphosphate kinase A (sprot)

A nucleoside diphosphate kinase A that is encoded in the genome of human.


NDK7_HUMAN Nucleoside diphosphate kinase 7 (sprot)

A nucleoside diphosphate kinase 7 that is encoded in the genome of human.


NDKB_HUMAN Nucleoside diphosphate kinase B (sprot)

A nucleoside diphosphate kinase B that is encoded in the genome of human.


NDK3_HUMAN Nucleoside diphosphate kinase 3 (sprot)

A nucleoside diphosphate kinase 3 that is encoded in the genome of human.


NDK6_HUMAN Nucleoside diphosphate kinase 6 (sprot)

A nucleoside diphosphate kinase 6 that is encoded in the genome of human.


NEUA_HUMAN N-acylneuraminate cytidylyltransferase (sprot)

An N-acylneuraminate cytidylyltransferase that is encoded in the genome of human.


ITPA_HUMAN Inosine triphosphate pyrophosphatase (sprot)

An inosine triphosphate pyrophosphatase that is encoded in the genome of human.


PCY1B_HUMAN Choline-phosphate cytidylyltransferase B (sprot)

A choline-phosphate cytidylyltransferase B that is encoded in the genome of human.


PFKAP_HUMAN ATP-dependent 6-phosphofructokinase, platelet type (sprot)

An ATP-dependent 6-phosphofructokinase, platelet type that is encoded in the genome of human.


RPC4_HUMAN DNA-directed RNA polymerase III subunit RPC4 (sprot)

A DNA-directed RNA polymerase III subunit RPC4 that is encoded in the genome of human.


RPB2_HUMAN DNA-directed RNA polymerase II subunit RPB2 (sprot)

A DNA-directed RNA polymerase II subunit RPB2 that is encoded in the genome of human.


PCY2_HUMAN Ethanolamine-phosphate cytidylyltransferase (sprot)

An ethanolamine-phosphate cytidylyltransferase that is encoded in the genome of human.


RPB1_HUMAN DNA-directed RNA polymerase II subunit RPB1 (sprot)

A DNA-directed RNA polymerase II subunit RPB1 that is encoded in the genome of human.


RPOM_HUMAN DNA-directed RNA polymerase, mitochondrial (sprot)

A DNA-directed RNA polymerase, mitochondrial that is encoded in the genome of human.


RPA2_HUMAN DNA-directed RNA polymerase I subunit RPA2 (sprot)

A DNA-directed RNA polymerase I subunit RPA2 that is encoded in the genome of human.


RPC7_HUMAN DNA-directed RNA polymerase III subunit RPC7 (sprot)

A DNA-directed RNA polymerase III subunit RPC7 that is encoded in the genome of human.


CDS2_HUMAN Phosphatidate cytidylyltransferase 2 (sprot)

A phosphatidate cytidylyltransferase 2 that is encoded in the genome of human.


RPC2_HUMAN DNA-directed RNA polymerase III subunit RPC2 (sprot)

A DNA-directed RNA polymerase III subunit RPC2 that is encoded in the genome of human.


PCY1A_HUMAN Choline-phosphate cytidylyltransferase A (sprot)

A choline-phosphate cytidylyltransferase A that is encoded in the genome of human.


RPA49_HUMAN DNA-directed RNA polymerase I subunit RPA49 (sprot)

A DNA-directed RNA polymerase I subunit RPA49 that is encoded in the genome of human.


PFKAL_HUMAN ATP-dependent 6-phosphofructokinase, liver type (sprot)

An ATP-dependent 6-phosphofructokinase, liver type that is encoded in the genome of human.


RPC8_HUMAN DNA-directed RNA polymerase III subunit RPC8 (sprot)

A DNA-directed RNA polymerase III subunit RPC8 that is encoded in the genome of human.


RPC10_HUMAN DNA-directed RNA polymerase III subunit RPC10 (sprot)

A DNA-directed RNA polymerase III subunit RPC10 that is encoded in the genome of human.


PFKAM_HUMAN ATP-dependent 6-phosphofructokinase, muscle type (sprot)

An ATP-dependent 6-phosphofructokinase, muscle type that is encoded in the genome of human.