Histidine Metabolism,Metabolic

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


Alzheimer disease type 1

category: biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing

description: Alzheimer's disease caused by mutation(s) in the APP gene, encoding amyloid-beta A4 protein. The onset of this condition typically occurs before age 65.


inherited obesity

description: Abnormally low body weight.


type 2 diabetes mellitus

description: A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity.


propionic acidemia

description: Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.


maple syrup urine disease type 1A

description: A maple syrup urine disease caused by mutations in BCKDHA.


name: CNDP1_HUMAN Beta-Ala-His dipeptidase (sprot)

description: A beta-Ala-His dipeptidase that is encoded in the genome of human.


name: ANM3_HUMAN Protein arginine N-methyltransferase 3 (sprot)

description: A protein arginine N-methyltransferase 3 that is encoded in the genome of human.


colorectal cancer

description: A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma.


SPSY_HUMAN Spermine synthase (sprot)

A spermine synthase that is encoded in the genome of human.


name: DHYS_HUMAN Deoxyhypusine synthase (sprot)

description: A deoxyhypusine synthase that is encoded in the genome of human.


name: AOC1_HUMAN Diamine oxidase [copper-containing] (sprot)

description: An amiloride-sensitive amine oxidase [copper-containing] that is encoded in the genome of human.


name: AOC3_HUMAN Amine oxidase [copper-containing] 3 (sprot)

description: A membrane primary amine oxidase that is encoded in the genome of human.


name: AOC2_HUMAN Amine oxidase [copper-containing] 2 (sprot)

description: A retina-specific copper amine oxidase that is encoded in the genome of human.


name: DCAM_HUMAN S-adenosylmethionine decarboxylase proenzyme (sprot)

description: A SAM decarboxylase proenzyme that is encoded in the genome of human.


name: DCOR_HUMAN Ornithine decarboxylase (sprot)

description: An ornithine decarboxylase that is encoded in the genome of human.


trimethylenediamine

An alkane-alpha,omega-diamine comprising a propane skeleton with amino substituents at positions 1 and 3.


name: Dihydropyrimidine Dehydrogenase Deficiency (DHPD),Disease


name: Glycine N-Methyltransferase Deficiency,Disease,Glycine N-methyltransferase deficiency (GNMT deficiency) is caused by mutation in the GNMT gene (606628). Glycine N-methyltransferase catalyzes the synthesis of N-methylglycine (sarcosine) from glycine using S-adenosylmethionine (AdoMet) as the methyl donor. GNMT acts as an enzyme to regulate the ratio of S-adenosylmethionine to S-adenosylhomocysteine (AdoHcy) and participates in the detoxification pathway in liver cells. A defect in this enzyme causes accumulation of methionine in the plasma and transaminases in the serum. Symptoms include hepatomegaly.


name: Methylenetetrahydrofolate Reductase Deficiency (MTHFRD),Disease


name: Methylmalonic Aciduria Due to Cobalamin-Related Disorders,Disease


name: S-Adenosylhomocysteine (SAH) Hydrolase Deficiency,Disease


name: Threonine and 2-Oxobutanoate Degradation,Metabolic


name: ODPB_HUMAN Pyruvate dehydrogenase E1 component subunit beta, mitochondrial (sprot)

description: A pyruvate dehydrogenase E1 component subunit beta, mitochondrial that is encoded in the genome of human.


name: ODPA_HUMAN Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial (sprot)

description: A pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial that is encoded in the genome of human.


name: ODPAT_HUMAN Pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial (sprot)

description: A pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial that is encoded in the genome of human.


name: ODBB_HUMAN 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial (sprot)

description: A 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial that is encoded in the genome of human.


name: ODBA_HUMAN 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial (sprot)

description: A 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial that is encoded in the genome of human.


name: ODO1_HUMAN 2-oxoglutarate dehydrogenase complex component E1 (sprot)

description: A 2-oxoglutarate dehydrogenase complex component E1 that is encoded in the genome of human.


name: CGL_HUMAN Cystathionine gamma-lyase (sprot)

description: A cystathionine gamma-lyase that is encoded in the genome of human.


name: SDHL_HUMAN L-serine dehydratase/L-threonine deaminase (sprot)

description: An L-serine dehydratase/L-threonine deaminase that is encoded in the genome of human.


name: LDH6A_HUMAN L-lactate dehydrogenase A-like 6A (sprot)

description: An L-lactate dehydrogenase A-like 6A that is encoded in the genome of human.


HUTU_HUMAN Urocanate hydratase (sprot)

A urocanate hydratase that is encoded in the genome of human.


name: BCKD_HUMAN Branched-chain alpha-ketoacid dehydrogenase kinase (sprot)

description: A branched-chain alpha-ketoacid dehydrogenase kinase that is encoded in the genome of human.


name: LDHB_HUMAN L-lactate dehydrogenase B chain (sprot)

description: An L-lactate dehydrogenase B chain that is encoded in the genome of human.


name: LDHC_HUMAN L-lactate dehydrogenase C chain (sprot)

description: An L-lactate dehydrogenase C chain that is encoded in the genome of human.


name: LDHA_HUMAN L-lactate dehydrogenase A chain (sprot)

description: An L-lactate dehydrogenase A chain that is encoded in the genome of human.


name: LDH6B_HUMAN L-lactate dehydrogenase A-like 6B (sprot)

description: An L-lactate dehydrogenase A-like 6B that is encoded in the genome of human.


name: TMLH_HUMAN Trimethyllysine dioxygenase, mitochondrial (sprot)

description: A trimethyllysine dioxygenase, mitochondrial that is encoded in the genome of human.


name: ALKB2_HUMAN DNA oxidative demethylase ALKBH2 (sprot)

description: A DNA oxidative demethylase ALKBH2 that is encoded in the genome of human.


name: ALKB3_HUMAN Alpha-ketoglutarate-dependent dioxygenase alkB homolog 3 (sprot)

description: An alpha-ketoglutarate-dependent dioxygenase alkB homolog 3 that is encoded in the genome of human.


name: SDSL_HUMAN Serine dehydratase-like (sprot)

description: A serine dehydratase-like that is encoded in the genome of human.


name: OGDHL_HUMAN 2-oxoglutarate dehydrogenase-like, mitochondrial (sprot)

description: A 2-oxoglutarate dehydrogenase-like, mitochondrial that is encoded in the genome of human.


name: OXGR1_HUMAN 2-oxoglutarate receptor 1 (sprot)

description: A 2-oxoglutarate receptor 1 that is encoded in the genome of human.


2-oxobutanoic acid

A 2-oxo monocarboxylic acid that is the 2-oxo derivative of butanoic acid.


schizophrenia

description: A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality.


semantic dementia

description: Semantic dementia (SD) is a form of frontotemporal dementia (FTD), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes.


name: pyruvate dehydrogenase E1-alpha deficiency

description: Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction.


pyruvate dehydrogenase E3 deficiency

description: Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease.


name: DLDH_HUMAN Dihydrolipoyl dehydrogenase, mitochondrial (sprot)

description: A dihydrolipoyl dehydrogenase, mitochondrial that is encoded in the genome of human.


name: ST2B1_HUMAN Sulfotransferase 2B1 (sprot)

description: A sulfotransferase 2B1 that is encoded in the genome of human.


name: UD11_HUMAN UDP-glucuronosyltransferase 1A1 (sprot)

description: A UDP-glucuronosyltransferase 1A1 that is encoded in the genome of human.


(S)-2-hydroxybutyric acid

An optically active form of 2-hydroxybutyric acid having (S)-configuration.


name: prolactin-producing pituitary gland adenoma

description: Prolactinoma is a usually benign neoplasm of the pituitary gland that results in hyperprolactinemia. The most common clinical manifestations are amenorrhea and infertility in women; and impotence, decreased libido and infertility in men.


name: COMT_HUMAN Catechol O-methyltransferase (sprot)

description: A catechol O-methyltransferase that is encoded in the genome of human.


name: UDB28_HUMAN UDP-glucuronosyltransferase 2B28 (sprot)

description: A UDP-glucuronosyltransferase 2B28 that is encoded in the genome of human.


name: UD2B4_HUMAN UDP-glucuronosyltransferase 2B4 (sprot)

description: A UDP-glucuronosyltransferase 2B4 that is encoded in the genome of human.


name: UD14_HUMAN UDP-glucuronosyltransferase 1A4 (sprot)

description: A UDP-glucuronosyltransferase 1A4 that is encoded in the genome of human.


name: UDB10_HUMAN UDP-glucuronosyltransferase 2B10 (sprot)

description: A UDP-glucuronosyltransferase 2B10 that is encoded in the genome of human.


name: UD2B7_HUMAN UDP-glucuronosyltransferase 2B7 (sprot)

description: A UDP-glucuronosyltransferase 2B7 that is encoded in the genome of human.


name: UDB15_HUMAN UDP-glucuronosyltransferase 2B15 (sprot)

description: A UDP-glucuronosyltransferase 2B15 that is encoded in the genome of human.


name: UD19_HUMAN UDP-glucuronosyltransferase 1A9 (sprot)

description: A UDP-glucuronosyltransferase 1A9 that is encoded in the genome of human.


name: UD18_HUMAN UDP-glucuronosyltransferase 1A8 (sprot)

description: A UDP-glucuronosyltransferase 1A8 that is encoded in the genome of human.


name: UD13_HUMAN UDP-glucuronosyltransferase 1A3 (sprot)

description: A UDP-glucuronosyltransferase 1A3 that is encoded in the genome of human.


name: UD110_HUMAN UDP-glucuronosyltransferase 1A10 (sprot)

description: A UDP-glucuronosyltransferase 1A10 that is encoded in the genome of human.


name: UDB17_HUMAN UDP-glucuronosyltransferase 2B17 (sprot)

description: A UDP-glucuronosyltransferase 2B17 that is encoded in the genome of human.


name: UD16_HUMAN UDP-glucuronosyltransferase 1-6 (sprot)

description: A UDP-glucuronosyltransferase 1-6 that is encoded in the genome of human.


name: UD15_HUMAN UDP-glucuronosyltransferase 1A5 (sprot)

description: A UDP-glucuronosyltransferase 1A5 that is encoded in the genome of human.


name: UDB11_HUMAN UDP-glucuronosyltransferase 2B11 (sprot)

description: A UDP-glucuronosyltransferase 2B11 that is encoded in the genome of human.


name: UD17_HUMAN UDP-glucuronosyltransferase 1A7 (sprot)

description: A protein that is a translation product of the UGT1A7 gene in human.


name: SHBG_HUMAN Sex hormone-binding globulin (sprot)

description: A sex hormone-binding globulin that is encoded in the genome of human.


name: UD2A3_HUMAN UDP-glucuronosyltransferase 2A3 (sprot)

description: A UDP-glucuronosyltransferase 2A3 that is encoded in the genome of human.


A 17-oxo steroid that is estrone in which the hydrogen at position 2 has been replaced by a methoxy group.


name: Succinyl CoA: 3-Ketoacid CoA Transferase Deficiency,Disease


familial pancreatic carcinoma

description: Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives.


oxoglutaricaciduria

description: Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder, resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases.


description: 3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism, reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death.


3-hydroxy-3-methylglutaric aciduria

description: 3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae.


name: congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency

description: Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias.


name: pyruvate dehydrogenase phosphatase deficiency

description: Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by lactic acidemia in the neonatal period.


name: carnitine palmitoyl transferase 1A deficiency

description: Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure.


inflammatory bowel disease 1

description: Any inflammatory bowel disease in which the cause of the disease is a mutation in the NOD2 gene.


name: medium chain acyl-CoA dehydrogenase deficiency

description: Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention.


fumaric aciduria

description: Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment.


pyruvate carboxylase deficiency disease

description: Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients.


name: BDH_HUMAN D-beta-hydroxybutyrate dehydrogenase, mitochondrial (sprot)

description: A D-beta-hydroxybutyrate dehydrogenase, mitochondrial that is encoded in the genome of human.


name: DHRS6_HUMAN Dehydrogenase/reductase SDR family member 6 (sprot)

description: A dehydrogenase/reductase SDR family member 6 that is encoded in the genome of human.


name: Q9NT06_HUMAN hydroxymethylglutaryl-CoA lyase (Fragment) (trembl)


β-D-hydroxybutyric acid

The R-enantiomer of 3-hydroxybutyric acid. Involved in the synthesis and degradation of ketone bodies, it can be used as an energy source by the brain during hypoglycaemia, and for the synthesis of biodegradable plastics. It is a sex pheremone in the European spider Linyphia triangularis.


name: MNGIE (Mitochondrial Neurogastrointestinal Encephalopathy),Disease


name: UMP Synthase Deficiency (Orotic Aciduria),Disease


name: PNPH_HUMAN Purine nucleoside phosphorylase (sprot)

description: A purine nucleoside phosphorylase that is encoded in the genome of human.


name: KITH_HUMAN Thymidine kinase, cytosolic (sprot)

description: A thymidine kinase, cytosolic that is encoded in the genome of human.


name: KITM_HUMAN Thymidine kinase 2, mitochondrial (sprot)

description: A thymidine kinase 2, mitochondrial that is encoded in the genome of human.


name: TYPH_HUMAN Thymidine phosphorylase (sprot)

description: A thymidine phosphorylase that is encoded in the genome of human.


CDD_HUMAN Cytidine deaminase (sprot)

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


name: UCKL1_HUMAN Uridine-cytidine kinase-like 1 (sprot)

description: A uridine-cytidine kinase-like 1 that is encoded in the genome of human.


name: ABC3G_HUMAN DNA dC->dU-editing enzyme APOBEC-3G (sprot)

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


DEOXYURIDINE

A pyrimidine 2'-deoxyribonucleoside having uracil as the nucleobase.


5NTD_HUMAN 5'-nucleotidase (sprot)

A 5'-nucleotidase that is encoded in the genome of human.


name: 5NT1B_HUMAN Cytosolic 5'-nucleotidase 1B (sprot)

description: A cytosolic 5'-nucleotidase 1B that is encoded in the genome of human.


name: 5NT1A_HUMAN Cytosolic 5'-nucleotidase 1A (sprot)

description: A cytosolic 5'-nucleotidase 1A that is encoded in the genome of human.


name: NT5C_HUMAN 5'(3')-deoxyribonucleotidase, cytosolic type (sprot)

description: A 5'(3')-deoxyribonucleotidase, cytosolic type that is encoded in the genome of human.


DCK_HUMAN Deoxycytidine kinase (sprot)

A deoxycytidine kinase that is encoded in the genome of human.


name: NT5M_HUMAN 5'(3')-deoxyribonucleotidase, mitochondrial (sprot)

description: A 5'(3')-deoxyribonucleotidase, mitochondrial that is encoded in the genome of human.


name: 5NT3A_HUMAN Cytosolic 5'-nucleotidase 3A (sprot)

description: A cytosolic 5'-nucleotidase 3A that is encoded in the genome of human.


name: 5NTC_HUMAN Cytosolic purine 5'-nucleotidase (sprot)

description: A cytosolic purine 5'-nucleotidase that is encoded in the genome of human.


DOXECITINE

A pyrimidine 2'-deoxyribonucleoside having cytosine as the nucleobase.


name: Acenocoumarol Action Pathway,Drug Action


name: Adrenal Hyperplasia Type 3 or Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency,Disease


name: Adrenal Hyperplasia Type 5 or Congenital Adrenal Hyperplasia Due to 17 alpha-Hydroxylase Deficiency,Disease


name: Aminocaproic Acid Action Pathway,Drug Action


name: Apparent Mineralocorticoid Excess Syndrome,Disease


name: Congenital Lipoid Adrenal Hyperplasia (CLAH) or Lipoid CAH,Disease


name: Corticosterone Methyl Oxidase I Deficiency (CMO I),Disease


name: Corticosterone Methyl Oxidase II Deficiency (CMO II),Disease


name: Lepirudin Action Pathway,Drug Action,Lepirudin (also known as Refludan) is an anticoagulant that can be used for inhibiting thrombin (prothrombin) irreversibly. Binding of thrombin can prevent formation of clot as well as thrombus.  Lepirudin can also reduce thrombocytopenia and break up clot.


name: Phenprocoumon Action Pathway,Drug Action


name: Streptokinase Action Pathway,Drug Action


name: Tranexamic Acid Action Pathway,Drug Action


name: Urokinase Action Pathway,Drug Action,Urokinase acts on the endogenous fibrinolytic system. It cleaves the Arg-Val bond in plasminogen to produce active plasmin. Plasmin degrades fibrin clots as well as fibrinogen and other plasma proteins.


name: congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

description: Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females.


name: C11B1_HUMAN Cytochrome P450 11B1, mitochondrial (sprot)

description: A cytochrome P450 11B that is a translation product of the CYP11B1 gene in human.


name: MCR_HUMAN Mineralocorticoid receptor (sprot)

description: A mineralocorticoid receptor that is encoded in the genome of human.


name: 3BHS1_HUMAN 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1 (sprot)

description: A 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1 that is encoded in the genome of human.


name: 3BHS2_HUMAN 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2 (sprot)

description: A 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2 that is encoded in the genome of human.


name: C11B2_HUMAN Cytochrome P450 11B2, mitochondrial (sprot)

description: A cytochrome P450 11B that is a translation product of the CYP11B2 gene in human.


name: Q08AG9_HUMAN Steroid 21-hydroxylase (trembl)


name: CP21A_HUMAN Steroid 21-hydroxylase (sprot)

description: A steroid 21-hydroxylase that is encoded in the genome of human.


A deoxycortisol that is cortisol in which the hydroxy group at position 11 has been replaced by a hydrogen.


name: congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency

description: A very rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension.


deoxycorticosterone

A mineralocorticoid that is progesterone substituted at position 21 by a hydroxy group.


AOXA_HUMAN Aldehyde oxidase (sprot)

An aldehyde oxidase that is encoded in the genome of human.


4-pyridoxic acid

A methylpyridine that is 2-methylpyridine substituted by a hydroxy group at C-3, a carboxy group at C-4, and a hydroxymethyl group at C-5. It is the catabolic product of vitamin B6 and is excreted in the urine.


name: 3-Hydroxyisobutyric Acid Dehydrogenase Deficiency,Disease,3-Hydroxyisobutyric aciduria  (3-hydroxyisobutyric acid dehydrogenase deficiency) is a rare entity and affected individuals display a range of clinical manifestations including dysmorphic features and neurodevelopmental problems in the majority of patients.


name: 3-Methylcrotonyl-CoA Carboxylase Deficiency Type I,Disease


name: 3-Methylglutaconic Aciduria Type I,Disease


name: 3-Methylglutaconic Aciduria Type III,Disease


name: 3-Methylglutaconic Aciduria Type IV,Disease


name: Methylmalonate Semialdehyde Dehydrogenase Deficiency,Disease


name: ODP2_HUMAN Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial (sprot)

description: A dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial that is encoded in the genome of human.


name: BCAT1_HUMAN Branched-chain-amino-acid aminotransferase, cytosolic (sprot)

description: A branched-chain-amino-acid aminotransferase, cytosolic that is encoded in the genome of human.


name: BCAT2_HUMAN Branched-chain-amino-acid aminotransferase, mitochondrial (sprot)

description: A branched-chain-amino-acid aminotransferase, mitochondrial that is encoded in the genome of human.


name: MOT4_HUMAN Monocarboxylate transporter 4 (sprot)

description: A monocarboxylate transporter 4 that is encoded in the genome of human.


name: MOT1_HUMAN Monocarboxylate transporter 1 (sprot)

description: A monocarboxylate transporter 1 that is encoded in the genome of human.


name: MOT2_HUMAN Monocarboxylate transporter 2 (sprot)

description: A monocarboxylate transporter 2 that is encoded in the genome of human.


A 2-oxo monocarboxylic acid that is the 2-oxo derivative of isovaleric acid.


name: Monoamine Oxidase-A Deficiency (MAO-A),Disease


lung cancer

description: A malignant neoplasm involving the lung.


phenylketonuria

description: Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients.


name: AL3A1_HUMAN Aldehyde dehydrogenase, dimeric NADP-preferring (sprot)

description: An aldehyde dehydrogenase, dimeric NADP-preferring that is encoded in the genome of human.


name: AL1A3_HUMAN Retinaldehyde dehydrogenase 3 (sprot)

description: A retinaldehyde dehydrogenase 3 that is encoded in the genome of human.


name: AL3B2_HUMAN Aldehyde dehydrogenase family 3 member B2 (sprot)

description: An aldehyde dehydrogenase family 3 member B2 that is encoded in the genome of human.


name: AL3B1_HUMAN Aldehyde dehydrogenase family 3 member B1 (sprot)

description: An aldehyde dehydrogenase family 3 member B1 that is encoded in the genome of human.


name: ST1A3_HUMAN Sulfotransferase 1A3 (sprot)

description: A sulfotransferase 1A3 that is encoded in the genome of human.


4-hydroxyphenylacetic acid

A monocarboxylic acid that is acetic acid in which one of the methyl hydrogens is substituted by a 4-hydroxyphenyl group.


PERT_HUMAN Thyroid peroxidase (sprot)

A thyroid peroxidase that is encoded in the genome of human.


IOTYROSINE

The monoiodotyrosine that is L-tyrosine carrying an iodo-substituent at position C-3 of the benzyl group.


late-onset Parkinson disease

description: A Parkinson disease that begins after around the age of 50.


Brunner syndrome

description: Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood.


name: AOFB_HUMAN Amine oxidase [flavin-containing] B (sprot)

description: An amine oxidase [flavin-containing] B that is encoded in the genome of human.


name: AOFA_HUMAN Amine oxidase [flavin-containing] A (sprot)

description: An amine oxidase [flavin-containing] A that is encoded in the genome of human.


A monomethoxybenzene that is dopamine in which the hydroxy group at position 3 is replaced by a methoxy group. It is a metabolite of the neurotransmitter dopamine and considered a potential biomarker of pheochromocytomas and paragangliomas.


3-hydroxyisobutyric aciduria

description: 3 hydroxyisobutyric aciduria is characterized by ketoacidotic episodes, cerebral anomalies and facial dysmorphism. It is an organic aciduria that involves valine metabolism. Thirteen cases have been described in the literature so far. Transmission is thought to be autosomal recessive.


name: ECHP_HUMAN Peroxisomal bifunctional enzyme (sprot)

description: A peroxisomal bifunctional enzyme that is encoded in the genome of human.


name: HCDH_HUMAN Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial (sprot)

description: A hydroxyacyl-coenzyme A dehydrogenase, mitochondrial that is encoded in the genome of human.


name: 3HIDH_HUMAN 3-hydroxyisobutyrate dehydrogenase, mitochondrial (sprot)

description: A 3-hydroxyisobutyrate dehydrogenase, mitochondrial that is encoded in the genome of human.


name: HIBCH_HUMAN 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial (sprot)

description: A 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial that is encoded in the genome of human.


name: metachromatic leukodystrophy, juvenile form

description: Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin.Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes.


GALC_HUMAN Galactocerebrosidase (sprot)

A galactocerebrosidase that is encoded in the genome of human.


ARSD_HUMAN Arylsulfatase D (sprot)

An arylsulfatase D that is encoded in the genome of human.


name: G3ST1_HUMAN Galactosylceramide sulfotransferase (sprot)

description: A galactosylceramide sulfotransferase that is encoded in the genome of human.


ARSA_HUMAN Arylsulfatase A (sprot)

An arylsulfatase A that is encoded in the genome of human.


ARSL_HUMAN Arylsulfatase L (sprot)

An arylsulfatase L that is encoded in the genome of human.


name: GBGT1_HUMAN Globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (sprot)

description: A globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 that is encoded in the genome of human.


name: PIGL_HUMAN N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase (sprot)

description: An N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase that is encoded in the genome of human.


name: ASM_HUMAN Sphingomyelin phosphodiesterase (sprot)

description: A sphingomyelin phosphodiesterase that is encoded in the genome of human.


name: CEGT_HUMAN Ceramide glucosyltransferase (sprot)

description: A ceramide glucosyltransferase that is encoded in the genome of human.


name: A4GAT_HUMAN Lactosylceramide 4-alpha-galactosyltransferase (sprot)

description: A lactosylceramide 4-alpha-galactosyltransferase that is encoded in the genome of human.


name: PIGQ_HUMAN Phosphatidylinositol N-acetylglucosaminyltransferase subunit Q (sprot)

description: A phosphatidylinositol N-acetylglucosaminyltransferase subunit Q that is encoded in the genome of human.


name: PIGA_HUMAN Phosphatidylinositol N-acetylglucosaminyltransferase subunit A (sprot)

description: An N-acetylglucosaminyl-phosphatidylinositol biosynthetic protein that is encoded in the genome of human.


name: PIGH_HUMAN Phosphatidylinositol N-acetylglucosaminyltransferase subunit H (sprot)

description: A phosphatidylinositol N-acetylglucosaminyltransferase subunit H that is encoded in the genome of human.


name: PIGP_HUMAN Phosphatidylinositol N-acetylglucosaminyltransferase subunit P (sprot)

description: A phosphatidylinositol N-acetylglucosaminyltransferase subunit P that is encoded in the genome of human.


name: PIGC_HUMAN Phosphatidylinositol N-acetylglucosaminyltransferase subunit C (sprot)

description: A phosphatidylinositol N-acetylglucosaminyltransferase subunit C that is encoded in the genome of human.


ASAH1_HUMAN Acid ceramidase (sprot)

An acid ceramidase that is encoded in the genome of human.


name: ENPP7_HUMAN Ectonucleotide pyrophosphatase/phosphodiesterase family member 7 (sprot)

description: An ectonucleotide pyrophosphatase/phosphodiesterase family member 7 that is encoded in the genome of human.


name: NSMA_HUMAN Sphingomyelin phosphodiesterase 2 (sprot)

description: A sphingomyelin phosphodiesterase 2 that is encoded in the genome of human.


name: CERT_HUMAN Ceramide transfer protein (sprot)

description: A ceramide transfer protein that is encoded in the genome of human.


SAP_HUMAN Prosaposin (sprot)

A prosaposin that is encoded in the genome of human.


name: SAP3_HUMAN Ganglioside GM2 activator (sprot)

description: A ganglioside GM2 activator that is encoded in the genome of human.


MBP_HUMAN Myelin basic protein (sprot)

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


name: GBA1_HUMAN Lysosomal acid glucosylceramidase (sprot)

description: A lysosomal acid glucosylceramidase that is encoded in the genome of human.


LYAM3_HUMAN P-selectin (sprot)

A P-selectin that is encoded in the genome of human.


LYAM1_HUMAN L-selectin (sprot)

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


name: CD1E_HUMAN T-cell surface glycoprotein CD1e, membrane-associated (sprot)

description: A T-cell surface glycoprotein CD1e that is encoded in the genome of human.


name: NPC2_HUMAN NPC intracellular cholesterol transporter 2 (sprot)

description: An NPC intracellular cholesterol transporter 2 that is encoded in the genome of human.


CERS1_HUMAN Ceramide synthase 1 (sprot)

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


name: CD1D_HUMAN Antigen-presenting glycoprotein CD1d (sprot)

description: An antigen-presenting glycoprotein CD1d that is encoded in the genome of human.


name: ATL1_HUMAN ADAMTS-like protein 1 (sprot)

description: An ADAMTS-like protein 1 that is encoded in the genome of human.


name: PIGM_HUMAN GPI mannosyltransferase 1 (sprot)

description: A GPI mannosyltransferase 1 that is encoded in the genome of human.


name: PIGW_HUMAN Phosphatidylinositol-glycan biosynthesis class W protein (sprot)

description: A phosphatidylinositol-glycan biosynthesis class W protein that is encoded in the genome of human.


name: PIGX_HUMAN Phosphatidylinositol-glycan biosynthesis class X protein (sprot)

description: A phosphatidylinositol-glycan biosynthesis class X protein that is encoded in the genome of human.


name: PIGZ_HUMAN GPI mannosyltransferase 4 (sprot)

description: A GPI mannosyltransferase 4 that is encoded in the genome of human.


name: B3GN5_HUMAN Lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase (sprot)

description: A UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 that is encoded in the genome of human.


name: NSMA2_HUMAN Sphingomyelin phosphodiesterase 3 (sprot)

description: A sphingomyelin phosphodiesterase 3 that is encoded in the genome of human.


name: B3GT5_HUMAN Beta-1,3-galactosyltransferase 5 (sprot)

description: A beta-1,3-galactosyltransferase 5 that is encoded in the genome of human.


name: B4GT6_HUMAN Beta-1,4-galactosyltransferase 6 (sprot)

description: A beta-1,4-galactosyltransferase 6 that is encoded in the genome of human.


name: PIGB_HUMAN GPI mannosyltransferase 3 (sprot)

description: A GPI mannosyltransferase 3 that is encoded in the genome of human.


name: PIGF_HUMAN Phosphatidylinositol-glycan biosynthesis class F protein (sprot)

description: A phosphatidylinositol-glycan biosynthesis class F protein that is encoded in the genome of human.


name: PIGG_HUMAN GPI ethanolamine phosphate transferase 2 (sprot)

description: A GPI ethanolamine phosphate transferase 2 that is encoded in the genome of human.


name: PIGN_HUMAN GPI ethanolamine phosphate transferase 1 (sprot)

description: A GPI ethanolamine phosphate transferase 1 that is encoded in the genome of human.


name: PIGO_HUMAN GPI ethanolamine phosphate transferase 3 (sprot)

description: A GPI ethanolamine phosphate transferase 3 that is encoded in the genome of human.


name: PIGS_HUMAN GPI transamidase component PIG-S (sprot)

description: A GPI transamidase component PIG-S that is encoded in the genome of human.


name: PIGT_HUMAN GPI transamidase component PIG-T (sprot)

description: A GPI transamidase component PIG-T that is encoded in the genome of human.


name: PIGU_HUMAN Phosphatidylinositol glycan anchor biosynthesis class U protein (sprot)

description: A phosphatidylinositol glycan anchor biosynthesis class U protein that is encoded in the genome of human.


name: PIGV_HUMAN GPI mannosyltransferase 2 (sprot)

description: A GPI mannosyltransferase 2 that is encoded in the genome of human.


name: PIGY_HUMAN Phosphatidylinositol N-acetylglucosaminyltransferase subunit Y (sprot)

description: A phosphatidylinositol N-acetylglucosaminyltransferase subunit Y that is encoded in the genome of human.


name: PKHA8_HUMAN Pleckstrin homology domain-containing family A member 8 (sprot)

description: A pleckstrin homology domain-containing family A member 8 that is encoded in the genome of human.


name: NSMA3_HUMAN Sphingomyelin phosphodiesterase 4 (sprot)

description: A sphingomyelin phosphodiesterase 4 that is encoded in the genome of human.


name: LAMA1_HUMAN Laminin subunit alpha-1 (sprot)

description: A laminin subunit alpha-1 that is encoded in the genome of human.


name: ACER2_HUMAN Alkaline ceramidase 2 (sprot)

description: An alkaline ceramidase 2 that is encoded in the genome of human.


ASAH2_HUMAN Neutral ceramidase (sprot)

A neutral ceramidase that is encoded in the genome of human.


name: GBA2_HUMAN Non-lysosomal glucosylceramidase (sprot)

description: A non-lysosomal glucosylceramidase that is encoded in the genome of human.


name: ACER1_HUMAN Alkaline ceramidase 1 (sprot)

description: An alkaline ceramidase 1 that is encoded in the genome of human.


name: KLRB1_HUMAN Killer cell lectin-like receptor subfamily B member 1 (sprot)

description: A killer cell lectin-like receptor subfamily B member 1 that is encoded in the genome of human.


CERS5_HUMAN Ceramide synthase 5 (sprot)

A ceramide synthase 5 that is encoded in the genome of human.


name: ABCA7_HUMAN Phospholipid-transporting ATPase ABCA7 (sprot)

description: A phospholipid-transporting ATPase ABCA7 that is encoded in the genome of human.


name: GPI8_HUMAN GPI-anchor transamidase (sprot)

description: A GPI-anchor transamidase that is encoded in the genome of human.


name: GPAA1_HUMAN Glycosylphosphatidylinositol anchor attachment 1 protein (sprot)

description: A glycosylphosphatidylinositol anchor attachment 1 protein that is encoded in the genome of human.


name: PKHA9_HUMAN Putative protein PLEKHA9 (sprot)

description: A putative protein PLEKHA9 that is encoded in the genome of human.


name: GLTD2_HUMAN Glycolipid transfer protein domain-containing protein 2 (sprot)

description: A glycolipid transfer protein domain-containing protein 2 that is encoded in the genome of human.


name: B5MDU3_HUMAN Pleckstrin homology domain-containing family A member 8 (trembl)


name: CD1A_HUMAN T-cell surface glycoprotein CD1a (sprot)

description: A T-cell surface glycoprotein CD1a that is encoded in the genome of human.


name: CPTP_HUMAN Ceramide-1-phosphate transfer protein (sprot)

description: A ceramide-1-phosphate transfer protein that is encoded in the genome of human.


name: CD1C_HUMAN T-cell surface glycoprotein CD1c (sprot)

description: A T-cell surface glycoprotein CD1c that is encoded in the genome of human.


name: LBP_HUMAN Lipopolysaccharide-binding protein (sprot)

description: A lipopolysaccharide-binding protein that is encoded in the genome of human.


name: Q9UFH6_HUMAN Uncharacterized protein DKFZp434L0435 (Fragment) (trembl)


name: CD1B_HUMAN T-cell surface glycoprotein CD1b (sprot)

description: A T-cell surface glycoprotein CD1b that is encoded in the genome of human.


name: GLTP_HUMAN Glycolipid transfer protein (sprot)

description: A glycolipid transfer protein that is encoded in the genome of human.


dihydropyrimidinuria

description: Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity.


DPYS_HUMAN Dihydropyrimidinase (sprot)

A dihydropyrimidinase that is encoded in the genome of human.


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


name: DPYL3_HUMAN Dihydropyrimidinase-related protein 3 (sprot)

description: A dihydropyrimidinase-related protein 3 that is encoded in the genome of human.


name: DPYL2_HUMAN Dihydropyrimidinase-related protein 2 (sprot)

description: A dihydropyrimidinase-related protein 2 that is encoded in the genome of human.


N-carbamoyl-beta-alanine

A beta-alanine derivative that is propionic acid bearing a ureido group at position 3.


name: Arginine: Glycine Amidinotransferase Deficiency (AGAT Deficiency),Disease


name: Aromatic L-Aminoacid Decarboxylase Deficiency,Disease


name: Doxorubicin Metabolism Pathway,Drug Metabolism


name: Guanidinoacetate Methyltransferase Deficiency (GAMT Deficiency),Disease


name: Hyperornithinemia with Gyrate Atrophy (HOGA),Disease


name: Hyperphenylalaninemia Due to Guanosine Triphosphate Cyclohydrolase Deficiency,Disease


name: Hyperphenylalaninemia Due to 6-Pyruvoyltetrahydropterin Synthase Deficiency (ptps),Disease


name: Hyperphenylalaninemia Due to DHPR-Deficiency,Disease


name: Ornithine Aminotransferase Deficiency (OAT Deficiency),Disease


name: Phenylalanine and Tyrosine Metabolism,Metabolic


name: Tyrosinemia Type 2 (or Richner-Hanhart Syndrome),Disease


TYRO_HUMAN Tyrosinase (sprot)

A tyrosinase that is encoded in the genome of human.


name: TY3H_HUMAN Tyrosine 3-monooxygenase (sprot)

description: A tyrosine 3-monooxygenase that is encoded in the genome of human.


A phenylalanine-4-hydroxylase that is encoded in the genome of human.


name: PTPS_HUMAN 6-pyruvoyl tetrahydrobiopterin synthase (sprot)

description: A 6-pyruvoyl tetrahydrobiopterin synthase that is encoded in the genome of human.


name: SPRE_HUMAN Sepiapterin reductase (sprot)

description: A sepiapterin reductase that is encoded in the genome of human.


name: TPH1_HUMAN Tryptophan 5-hydroxylase 1 (sprot)

description: A tryptophan 5-hydroxylase 1 that is encoded in the genome of human.


name: TPH2_HUMAN Tryptophan 5-hydroxylase 2 (sprot)

description: A tryptophan 5-hydroxylase 2 that is encoded in the genome of human.


name: DHPR_HUMAN Dihydropteridine reductase (sprot)

description: A dihydropteridine reductase that is encoded in the genome of human.


name: NOS2_HUMAN Nitric oxide synthase, inducible (sprot)

description: A nitric oxide synthase, inducible that is encoded in the genome of human.


name: NOS1_HUMAN Nitric oxide synthase 1 (sprot)

description: A nitric oxide synthase 1 that is encoded in the genome of human.


name: NOS3_HUMAN Nitric oxide synthase 3 (sprot)

description: A nitric oxide synthase 3 that is encoded in the genome of human.


GCH1_HUMAN GTP cyclohydrolase 1 (sprot)

A GTP cyclohydrolase 1 that is encoded in the genome of human.


name: GFRP_HUMAN GTP cyclohydrolase 1 feedback regulatory protein (sprot)

description: A GTP cyclohydrolase 1 feedback regulatory protein that is encoded in the genome of human.


name: PHS_HUMAN Pterin-4-alpha-carbinolamine dehydratase (sprot)

description: A pterin-4-alpha-carbinolamine dehydratase that is encoded in the genome of human.


name: Q9UM94_HUMAN Calcium-calmodulin independent nitric oxide synthase iNOS protein (Fragment) (trembl)


sapropterin

A tetrahydropterin that is 2-amino-5,6,7,8-tetrahydropteridin-4(3H)-one in which a hydrogen at position 6 is substituted by a 1,2-dihydroxypropyl group (6R,1'R,2'S-enantiomer).


name: 2-Hydroxyglutric Aciduria (D and L Form),Disease


name: 2-Ketoglutarate Dehydrogenase Complex Deficiency,Disease


name: 4-Hydroxybutyric Aciduria/Succinic Semialdehyde Dehydrogenase Deficiency,Disease


name: Glycogen Storage Disease Type 1A (GSD1A) or Von Gierke Disease,Disease


name: Mitochondrial Complex II Deficiency,Disease


name: Phosphoenolpyruvate Carboxykinase Deficiency 1 (PEPCK1),Disease


name: Pyruvate Decarboxylase E1 Component Deficiency (PDHE1 Deficiency),Disease


name: Pyruvate Dehydrogenase Complex Deficiency,Disease


name: Pyruvate Dehydrogenase Deficiency (E2),Disease


name: Pyruvate Dehydrogenase Deficiency (E3),Disease


name: Succinic Semialdehyde Dehydrogenase Deficiency,Disease


name: The Oncogenic Action of 2-Hydroxyglutarate,Disease


name: The Oncogenic Action of D-2-Hydroxyglutarate in Hydroxyglutaric aciduria ,Disease


name: The Oncogenic Action of Fumarate,Disease


name: The Oncogenic Action of L-2-Hydroxyglutarate in Hydroxyglutaric aciduria ,Disease


name: The Oncogenic Action of Succinate,Disease


name: Transfer of Acetyl Groups into Mitochondria,Metabolic


name: inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1

description: A rare autosomal dominant inherited disorder caused by mutations in the VCP gene. It can affect the muscles, bones, and brain. Patients may develop myopathy that initially involves the muscles of the hips and shoulders and as the disorder progresses it may affect the cardiac and respiratory muscles, leading to life-threatening cardiac and pulmonary failure. Approximately half of the adults develop Paget disease of bone, and approximately one-third develop frontotemporal dementia.


name: ACACB_HUMAN Acetyl-CoA carboxylase 2 (sprot)

description: An acetyl-CoA carboxylase 2 that is encoded in the genome of human.


name: PYC_HUMAN Pyruvate carboxylase, mitochondrial (sprot)

description: A pyruvate carboxylase, mitochondrial that is encoded in the genome of human.


name: ACACA_HUMAN Acetyl-CoA carboxylase 1 (sprot)

description: An acetyl-CoA carboxylase 1 that is encoded in the genome of human.


name: PCCB_HUMAN Propionyl-CoA carboxylase beta chain, mitochondrial (sprot)

description: A propionyl-CoA carboxylase beta chain, mitochondrial that is encoded in the genome of human.


name: PCCA_HUMAN Propionyl-CoA carboxylase alpha chain, mitochondrial (sprot)

description: A propionyl-CoA carboxylase alpha chain, mitochondrial that is encoded in the genome of human.


name: MCCB_HUMAN Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial (sprot)

description: A methylcrotonoyl-CoA carboxylase beta chain, mitochondrial that is encoded in the genome of human. The human MCCC2 gene contains 17 exons, and maps to the chromosomal location 5q12-q13.


name: BPL1_HUMAN Biotin--protein ligase (sprot)

description: A biotin--protein ligase that is encoded in the genome of human.


name: MCCA_HUMAN Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial (sprot)

description: A methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial that is encoded in the genome of human. The human MCCC1 gene contains 19 exons, and maps to the chromosomal location 3q25-27.


BTD_HUMAN Biotinidase (sprot)

A biotinidase that is encoded in the genome of human.


CP1B1_HUMAN Cytochrome P450 1B1 (sprot)

A cytochrome P450 1B1 that is encoded in the genome of human.


name: SC5A6_HUMAN Sodium-dependent multivitamin transporter (sprot)

description: A sodium-dependent multivitamin transporter that is encoded in the genome of human.


name: Q68D27_HUMAN Uncharacterized protein DKFZp686B20267 (trembl)


biotin

An organic heterobicyclic compound that consists of 2-oxohexahydro-1H-thieno[3,4-d]imidazole having a valeric acid substituent attached to the tetrahydrothiophene ring. The parent of the class of biotins.


name: AK1C4_HUMAN Aldo-keto reductase family 1 member C4 (sprot)

description: An aldo-keto reductase family 1 member C4 that is encoded in the genome of human.


name: ST2A1_HUMAN Sulfotransferase 2A1 (sprot)

description: A sulfotransferase 2A1 that is encoded in the genome of human.


name: AK1C3_HUMAN Aldo-keto reductase family 1 member C3 (sprot)

description: An aldo-keto reductase family 1 member C3 that is encoded in the genome of human.


name: AK1C1_HUMAN Aldo-keto reductase family 1 member C1 (sprot)

description: An aldo-keto reductase family 1 member C1 that is encoded in the genome of human.


name: AK1C2_HUMAN Aldo-keto reductase family 1 member C2 (sprot)

description: An aldo-keto reductase family 1 member C2 that is encoded in the genome of human.


ANDR_HUMAN Androgen receptor (sprot)

An androgen receptor that is encoded in the genome of human.


name: DHRS9_HUMAN Dehydrogenase/reductase SDR family member 9 (sprot)

description: A dehydrogenase/reductase SDR family member 9 that is encoded in the genome of human.


name: RDH16_HUMAN Retinol dehydrogenase 16 (sprot)

description: A retinol dehydrogenase 16 that is encoded in the genome of human.


ANDROSTERONE

An androstanoid that is 5alpha-androstane having a hydroxy substituent at the 3alpha-position and an oxo group at the 17-position. It is a metabolite of dehydroepiandrosterone .


name: Cholesteryl Ester Storage Disease,Disease


name: Lysosomal Acid Lipase Deficiency (Wolman Disease),Disease


lathosterolosis

description: Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.


Smith-Lemli-Opitz syndrome

description: Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.


name: HMCS2_HUMAN Hydroxymethylglutaryl-CoA synthase, mitochondrial (sprot)

description: A hydroxymethylglutaryl-CoA synthase, mitochondrial that is encoded in the genome of human.


SC5D_HUMAN Lathosterol oxidase (sprot)

A lathosterol oxidase that is encoded in the genome of human.


name: SCP2_HUMAN Sterol carrier protein 2 (sprot)

description: A sterol carrier protein 2 that is encoded in the genome of human.


name: DHCR7_HUMAN 7-dehydrocholesterol reductase (sprot)

description: A 7-dehydrocholesterol reductase that is encoded in the genome of human.


name: CP11A_HUMAN Cholesterol side-chain cleavage enzyme, mitochondrial (sprot)

description: A cytochrome P450 11A1, mitochondrial that is encoded in the genome of human.


name: DHC24_HUMAN Delta(24)-sterol reductase (sprot)

description: A Delta(24)-sterol reductase that is encoded in the genome of human.


carnosinemia

description: Carnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency.


PERM_HUMAN Myeloperoxidase (sprot)

A myeloperoxidase that is encoded in the genome of human.


name: DCHS_HUMAN Histidine decarboxylase (sprot)

description: A histidine decarboxylase that is encoded in the genome of human.


VIME_HUMAN Vimentin (sprot)

A vimentin that is encoded in the genome of human.


name: S15A2_HUMAN Solute carrier family 15 member 2 (sprot)

description: A solute carrier family 15 member 2 that is encoded in the genome of human.


name: CRNS1_HUMAN Carnosine synthase 1 (sprot)

description: A carnosine synthase 1 that is encoded in the genome of human.


carnosine

A dipeptide that is the N-(beta-alanyl) derivative of L-histidine.


name: Adenine Phosphoribosyltransferase Deficiency (APRT),Disease


name: Gout or Kelley-Seegmiller Syndrome,Disease


name: Mercaptopurine Action Pathway,Drug Action


name: Mitochondrial DNA Depletion Syndrome,Disease


name: Purine Nucleoside Phosphorylase Deficiency,Disease


name: Xanthine Dehydrogenase Deficiency (Xanthinuria),Disease


name: XDH_HUMAN Xanthine dehydrogenase/oxidase (sprot)

description: A xanthine dehydrogenase/oxidase that is encoded in the genome of human.


name: MTAP_HUMAN S-methyl-5'-thioadenosine phosphorylase (sprot)

description: An S-methyl-5'-thioadenosine phosphorylase that is encoded in the genome of human.


name: APT_HUMAN Adenine phosphoribosyltransferase (sprot)

description: An adenine phosphoribosyltransferase that is encoded in the genome of human.


name: HPRT_HUMAN Hypoxanthine-guanine phosphoribosyltransferase (sprot)

description: A hypoxanthine-guanine phosphoribosyltransferase that is encoded in the genome of human.


name: PECR_HUMAN Peroxisomal trans-2-enoyl-CoA reductase (sprot)

description: A peroxisomal trans-2-enoyl-CoA reductase that is encoded in the genome of human.


name: S29A2_HUMAN Equilibrative nucleoside transporter 2 (sprot)

description: An equilibrative nucleoside transporter 2 that is encoded in the genome of human.


name: S29A3_HUMAN Equilibrative nucleoside transporter 3 (sprot)

description: An equilibrative nucleoside transporter 3 that is encoded in the genome of human.


adenine

The parent compound of the 6-aminopurines, composed of a purine having an amino group at C-6.


name: Congenital Bile Acid Synthesis Defect Type II,Disease


name: Congenital Bile Acid Synthesis Defect Type III,Disease


hepatocellular carcinoma

description: A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation.


extrahepatic biliary atresia

description: A disorder of infants in which there is progressive obliteration or discontinuity of the extrahepatic biliary system, resulting in obstruction of bile flow.


name: CEL_HUMAN Bile salt-activated lipase (sprot)

description: A bile salt-activated lipase that is encoded in the genome of human.


name: SO1B3_HUMAN Solute carrier organic anion transporter family member 1B3 (sprot)

description: A solute carrier organic anion transporter family member 1B3 that is encoded in the genome of human.


name: SO1C1_HUMAN Solute carrier organic anion transporter family member 1C1 (sprot)

description: A solute carrier organic anion transporter family member 1C1 that is encoded in the genome of human.


name: SO1B1_HUMAN Solute carrier organic anion transporter family member 1B1 (sprot)

description: A solute carrier organic anion transporter family member 1B1 that is encoded in the genome of human.


CP7A1_HUMAN Cytochrome P450 7A1 (sprot)

A cytochrome P450 7A1 that is encoded in the genome of human.


name: BAAT_HUMAN Bile acid-CoA:amino acid N-acyltransferase (sprot)

description: A bile acid-CoA:amino acid N-acyltransferase that is encoded in the genome of human.


name: MRP2_HUMAN ATP-binding cassette sub-family C member 2 (sprot)

description: An ATP-binding cassette sub-family C member 2 that is encoded in the genome of human.


name: MRP1_HUMAN Multidrug resistance-associated protein 1 (sprot)

description: A multidrug resistance-associated protein 1 that is encoded in the genome of human.


name: SO2B1_HUMAN Solute carrier organic anion transporter family member 2B1 (sprot)

description: A solute carrier organic anion transporter family member 2B1 that is encoded in the genome of human.


name: MRP3_HUMAN ATP-binding cassette sub-family C member 3 (sprot)

description: An ATP-binding cassette sub-family C member 3 that is encoded in the genome of human.


name: ABCBB_HUMAN Bile salt export pump (sprot)

description: A bile salt export pump that is encoded in the genome of human.


name: MDR1_HUMAN ATP-dependent translocase ABCB1 (sprot)

description: An ATP-dependent translocase ABCB1 that is encoded in the genome of human.


name: ABCG2_HUMAN Broad substrate specificity ATP-binding cassette transporter ABCG2 (sprot)

description: A broad substrate specificity ATP-binding cassette transporter ABCG2 that is encoded in the genome of human.


name: NTCP2_HUMAN Ileal sodium/bile acid cotransporter (sprot)

description: An ileal sodium/bile acid cotransporter that is encoded in the genome of human.


name: NTCP_HUMAN Hepatic sodium/bile acid cotransporter (sprot)

description: A hepatic sodium/bile acid cotransporter that is encoded in the genome of human.


name: S22A1_HUMAN Solute carrier family 22 member 1 (sprot)

description: A solute carrier family 22 member 1 that is encoded in the genome of human.


name: SO1A2_HUMAN Solute carrier organic anion transporter family member 1A2 (sprot)

description: A solute carrier organic anion transporter family member 1A2 that is encoded in the genome of human.


name: SO4A1_HUMAN Solute carrier organic anion transporter family member 4A1 (sprot)

description: A solute carrier organic anion transporter family member 4A1 that is encoded in the genome of human.


name: MRP4_HUMAN ATP-binding cassette sub-family C member 4 (sprot)

description: An ATP-binding cassette sub-family C member 4 that is encoded in the genome of human.


name: SO3A1_HUMAN Solute carrier organic anion transporter family member 3A1 (sprot)

description: A solute carrier organic anion transporter family member 3A1 that is encoded in the genome of human.


name: S22A6_HUMAN Solute carrier family 22 member 6 (sprot)

description: A solute carrier family 22 member 6 that is encoded in the genome of human.


name: MRP8_HUMAN ATP-binding cassette sub-family C member 11 (sprot)

description: An ATP-binding cassette sub-family C member 11 that is encoded in the genome of human.


FABP6_HUMAN Gastrotropin (sprot)

A gastrotropin that is encoded in the genome of human.


TAUROCHOLIC ACID

A bile acid taurine conjugate of  cholic acid that usually occurs as the sodium salt of bile in mammals.


name: Bendroflumethiazide Action Pathway,Drug Action


name: Chlorothiazide Action Pathway,Drug Action


name: Chlorthalidone Action Pathway,Drug Action


name: Cyclothiazide Action Pathway,Drug Action


name: Ethacrynic Acid Action Pathway,Drug Action


name: Glucose Transporter Defect (SGLT2),Disease


name: Hydrochlorothiazide Action Pathway,Drug Action


name: Hydroflumethiazide Action Pathway,Drug Action


name: Lysinuric Protein Intolerance (LPI),Disease


name: Methyclothiazide Action Pathway,Drug Action


name: Spironolactone Action Pathway,Drug Action


name: Trichlormethiazide Action Pathway,Drug Action


Bartter disease type 4A

description: Any Bartter syndrome in which the cause of the disease is a mutation in the BSND gene.


Bartter disease type 1

description: An autosomal recessive subtype of Bartter syndrome caused by mutation(s) in the SLC12A1 gene, encoding solute carrier family 12 member 1.The onset occurs in the antenatal period, and may be characterized by polyhydramnios, premature birth, failure to thrive and mental retardation. Clinical variability in the severity of symptoms exists and an essential feature of antenatal forms of Bartter syndrome is marked hypercalciuria.


name: Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency

description: A rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the <i>CYP11A1</i> gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels.


Bartter disease type 2

description: Any Bartter syndrome in which the cause of the disease is a mutation in the KCNJ1 gene.


Bartter disease type 4B

description: A Bartter disease that has material basis in simultaneous mutation in both the CLCNKA and CLCNKB genes.


name: autosomal recessive proximal renal tubular acidosis

description: Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features.


name: congenital secretory chloride diarrhea 1

description: Any secretory diarrhea in which the cause of the disease is a mutation in the SLC26A3 gene.


name: corticosterone methyloxidase type 1 deficiency


glucocorticoid resistance

description: An autosomal dominant condition due to mutation(s) in the NR3C1 gene, encoding the glucocorticoid receptor, resulting in decreased receptor affinity to glucocorticoids. Compensatory activation of the hypothalamic- pituitary-adrenal (HPA) axis results in increased mineralocorticoid and androgen production; clinical manifestations of glucocorticoid deficiency are rare.


name: congenital lipoid adrenal hyperplasia due to STAR deficency

description: Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males.


name: AK1D1_HUMAN Aldo-keto reductase family 1 member D1 (sprot)

description: An aldo-keto reductase family 1 member D1 that is encoded in the genome of human.


name: SGK1_HUMAN Serine/threonine-protein kinase Sgk1 (sprot)

description: A serine/threonine-protein kinase Sgk1 that is encoded in the genome of human.


name: EGFR_HUMAN Epidermal growth factor receptor (sprot)

description: An epidermal growth factor receptor that is encoded in the genome of human.


name: KPCD1_HUMAN Serine/threonine-protein kinase D1 (sprot)

description: A serine/threonine-protein kinase D1 that is encoded in the genome of human.


FINC_HUMAN Fibronectin (sprot)

A fibronectin that is encoded in the genome of human.


name: ANFB_HUMAN Natriuretic peptides B (sprot)

description: A natriuretic peptides B that is encoded in the genome of human.


CCN2_HUMAN CCN family member 2 (sprot)

A CCN family member 2 that is encoded in the genome of human.


name: AGTR1_HUMAN Type-1 angiotensin II receptor (sprot)

description: An angiotensin II receptor 1 that is encoded in the genome of human.


ADML_HUMAN Pro-adrenomedullin (sprot)

A pro-adrenomedullin that is encoded in the genome of human.


name: PE2R4_HUMAN Prostaglandin E2 receptor EP4 subtype (sprot)

description: A prostaglandin E2 receptor EP4 subtype that is encoded in the genome of human.


MELPH_HUMAN Melanophilin (sprot)

A melanophilin that is encoded in the genome of human.


aldosterone

A pregnane-based steroidal hormone produced by the outer-section (zona glomerulosa) of the adrenal cortex in the adrenal gland, and acts on the distal tubules and collecting ducts of the kidney to cause the conservation of sodium, secretion of potassium, increased water retention, and increased blood pressure. The overall effect of aldosterone is to increase reabsorption of ions and water in the kidney.


name: DYR_HUMAN Dihydrofolate reductase (sprot)

description: A dihydrofolate reductase that is encoded in the genome of human.


name: PHS2_HUMAN Pterin-4-alpha-carbinolamine dehydratase 2 (sprot)

description: A pterin-4-alpha-carbinolamine dehydratase 2 that is encoded in the genome of human.


name: ALKMO_HUMAN Alkylglycerol monooxygenase (sprot)

description: An alkylglycerol monooxygenase that is encoded in the genome of human.


A 7,8-dihydrobiopterin in which the 1,2-dihydroxypropyl group has (1R,2S)-configuration; naturally occurring form.


autism

description: Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.


rheumatoid arthritis

description: A chronic, systemic autoimmune disorder characterized by inflammation in the synovial membranes and articular surfaces. It manifests primarily as a symmetric, erosive polyarthritis that spares the axial skeleton and is typically associated with the presence in the serum of rheumatoid factor.


CHLE_HUMAN Cholinesterase (sprot)

A cholinesterase that is encoded in the genome of human.


name: TNFA_HUMAN Tumor necrosis factor (sprot)

description: A tumor necrosis factor that is encoded in the genome of human.


name: PPARG_HUMAN Peroxisome proliferator-activated receptor gamma (sprot)

description: A peroxisome proliferator-activated receptor gamma that is encoded in the genome of human.


name: HDAC4_HUMAN Histone deacetylase 4 (sprot)

description: A histone deacetylase 4 that is encoded in the genome of human.


name: HDAC9_HUMAN Histone deacetylase 9 (sprot)

description: A histone deacetylase 9 that is encoded in the genome of human.


name: ACSM1_HUMAN Acyl-coenzyme A synthetase ACSM1, mitochondrial (sprot)

description: An acyl-coenzyme A synthetase ACSM1, mitochondrial that is encoded in the genome of human.


name: ACSM6_HUMAN Acyl-coenzyme A synthetase ACSM6, mitochondrial (sprot)

description: An acyl-coenzyme A synthetase ACSM6, mitochondrial that is encoded in the genome of human.


name: ACS2A_HUMAN Acyl-coenzyme A synthetase ACSM2A, mitochondrial (sprot)

description: An acyl-coenzyme A synthetase ACSM2A, mitochondrial that is encoded in the genome of human.


name: ACS2B_HUMAN Acyl-coenzyme A synthetase ACSM2B, mitochondrial (sprot)

description: An acyl-coenzyme A synthetase ACSM2B, mitochondrial that is encoded in the genome of human.


name: ACSM3_HUMAN Acyl-coenzyme A synthetase ACSM3, mitochondrial (sprot)

description: An acyl-coenzyme A synthetase ACSM3, mitochondrial that is encoded in the genome of human.


name: ACSM5_HUMAN Acyl-coenzyme A synthetase ACSM5, mitochondrial (sprot)

description: An acyl-coenzyme A synthetase ACSM5, mitochondrial that is encoded in the genome of human.


name: HDAC2_HUMAN Histone deacetylase 2 (sprot)

description: A histone deacetylase 2 that is encoded in the genome of human.


name: HDAC3_HUMAN Histone deacetylase 3 (sprot)

description: A histone deacetylase 3 that is encoded in the genome of human.


name: HDAC5_HUMAN Histone deacetylase 5 (sprot)

description: A histone deacetylase 5 that is encoded in the genome of human.


name: ACSM4_HUMAN Acyl-coenzyme A synthetase ACSM4, mitochondrial (sprot)

description: An acyl-coenzyme A synthetase ACSM4, mitochondrial that is encoded in the genome of human.


butyric acid

A straight-chain saturated fatty acid that is butane in which one of the terminal methyl groups has been oxidised to a carboxy group.


name: Heroin Metabolism Pathway,Drug Metabolism


name: Hypoacetylaspartia,Disease,Hypoacetylaspartia is a result of a defect in L-aspartate-N-acetyltransferase which results in a strongly decreased concentration of N-acetyl-L-aspartic acid according to the in vivo spectrum of the brain.


name: Salla Disease/Infantile Sialic Acid Storage Disease,Disease


name: Sialuria or French Type Sialuria,Disease


name: URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1


argininosuccinic aciduria

description: Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction.


tyrosinemia type I

description: Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone.


name: HMGCL_HUMAN Hydroxymethylglutaryl-CoA lyase, mitochondrial (sprot)

description: A hydroxymethylglutaryl-CoA lyase, mitochondrial that is encoded in the genome of human.


name: ACO12_HUMAN Acetyl-coenzyme A thioesterase (sprot)

description: An acetyl-coenzyme A thioesterase that is encoded in the genome of human.


name: ACSA_HUMAN Acetyl-coenzyme A synthetase, cytoplasmic (sprot)

description: An acetyl-coenzyme A synthetase, cytoplasmic that is encoded in the genome of human.


name: ACS2L_HUMAN Acetyl-coenzyme A synthetase 2-like, mitochondrial (sprot)

description: An acetyl-coenzyme A synthetase 2-like, mitochondrial that is encoded in the genome of human.


name: PON3_HUMAN Serum paraoxonase/lactonase 3 (sprot)

description: A serum paraoxonase/lactonase 3 that is encoded in the genome of human.


name: PON1_HUMAN Serum paraoxonase/arylesterase 1 (sprot)

description: A serum paraoxonase/arylesterase 1 that is encoded in the genome of human.


name: PON2_HUMAN Serum paraoxonase/arylesterase 2 (sprot)

description: A serum paraoxonase/arylesterase 2 that is encoded in the genome of human.


name: AL9A1_HUMAN 4-trimethylaminobutyraldehyde dehydrogenase (sprot)

description: A 4-trimethylaminobutyraldehyde dehydrogenase that is encoded in the genome of human.


name: AL7A1_HUMAN Alpha-aminoadipic semialdehyde dehydrogenase (sprot)

description: An alpha-aminoadipic semialdehyde dehydrogenase that is encoded in the genome of human.


name: ALDH2_HUMAN Aldehyde dehydrogenase, mitochondrial (sprot)

description: An aldehyde dehydrogenase, mitochondrial that is encoded in the genome of human.


name: AL3A2_HUMAN Aldehyde dehydrogenase family 3 member A2 (sprot)

description: An aldehyde dehydrogenase family 3 member A2 that is encoded in the genome of human.


name: AL1B1_HUMAN Aldehyde dehydrogenase X, mitochondrial (sprot)

description: An aldehyde dehydrogenase X, mitochondrial that is encoded in the genome of human.


name: EST1_HUMAN Liver carboxylesterase 1 (sprot)

description: A liver carboxylesterase 1 that is encoded in the genome of human.


EST2_HUMAN Cocaine esterase (sprot)

A cocaine esterase that is encoded in the genome of human.


name: ESTD_HUMAN S-formylglutathione hydrolase (sprot)

description: An S-formylglutathione hydrolase that is encoded in the genome of human.


name: PAFA_HUMAN Platelet-activating factor acetylhydrolase (sprot)

description: A platelet-activating factor acetylhydrolase that is encoded in the genome of human.


ACES_HUMAN Acetylcholinesterase (sprot)

An acetylcholinesterase that is encoded in the genome of human.


name: PA1B3_HUMAN Platelet-activating factor acetylhydrolase IB subunit alpha1 (sprot)

description: A platelet-activating factor acetylhydrolase IB subunit alpha1 that is encoded in the genome of human.


name: PA1B2_HUMAN Platelet-activating factor acetylhydrolase IB subunit alpha2 (sprot)

description: A platelet-activating factor acetylhydrolase IB subunit alpha2 that is encoded in the genome of human.


name: PAFA2_HUMAN Platelet-activating factor acetylhydrolase 2, cytoplasmic (sprot)

description: A platelet-activating factor acetylhydrolase 2, cytoplasmic that is encoded in the genome of human.


name: SIAE_HUMAN Sialate O-acetylesterase (sprot)

description: A sialate O-acetylesterase that is encoded in the genome of human.


ACYP2_HUMAN Acylphosphatase-2 (sprot)

An acylphosphatase-2 that is encoded in the genome of human.


ACYP1_HUMAN Acylphosphatase-1 (sprot)

An acylphosphatase-1 that is encoded in the genome of human.


ACY1_HUMAN Aminoacylase-1 (sprot)

An aminoacylase-1 that is encoded in the genome of human.


ACY2_HUMAN Aspartoacylase (sprot)

An aspartoacylase that is encoded in the genome of human.


name: LIS1_HUMAN Platelet-activating factor acetylhydrolase IB subunit beta (sprot)

description: A platelet-activating factor acetylhydrolase IB subunit beta that is encoded in the genome of human.


name: ACY3_HUMAN N-acyl-aromatic-L-amino acid amidohydrolase (carboxylate-forming) (sprot)

description: An N-acyl-aromatic-L-amino acid amidohydrolase, carboxylate-forming that is encoded in the genome of human.


name: CP17A_HUMAN Steroid 17-alpha-hydroxylase/17,20 lyase (sprot)

description: A cytochrome P450 17A1 that is encoded in the genome of human.


name: NAGA_HUMAN N-acetylglucosamine-6-phosphate deacetylase (sprot)

description: A eukaryotic-type N-acetylglucosamine-6-phosphate deacetylase that is encoded in the genome of human.


name: CLYBL_HUMAN Citramalyl-CoA lyase, mitochondrial (sprot)

description: A citramalyl-CoA lyase, mitochondrial that is encoded in the genome of human.


name: LPP60_HUMAN 60 kDa lysophospholipase (sprot)

description: A 60 kDa lysophospholipase that is encoded in the genome of human.


name: Q96FY7_HUMAN acetate--CoA ligase (Fragment) (trembl)


name: ACSS3_HUMAN Acyl-CoA synthetase short-chain family member 3, mitochondrial (sprot)

description: An acyl-CoA synthetase short-chain family member 3, mitochondrial that is encoded in the genome of human.


acetic acid

A simple monocarboxylic acid containing two carbons.


name: Sarcosine Oncometabolite Pathway ,Disease


name: hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase

description: Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency is characterized by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels.


periodontitis, aggressive 1

description: A localized aggressive periodontitis, formerly called localized juvenile periodontitis. It is a destructive form of periodontitis characterized by ALVEOLAR BONE LOSS of the MOLARS and INCISORS. Inflammation and loss of PERIODONTIUM that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as DENTAL PLAQUE and DENTAL CALCULUS. This highly destructive form of periodontitis often occurs in young people and was called early-onset periodontitis, but this disease also appears in old people.


description: An extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor. This is an n-of-1 use case where only one patient or family has been described with this disorder.


name: CHDH_HUMAN Choline dehydrogenase, mitochondrial (sprot)

description: A choline dehydrogenase, mitochondrial that is encoded in the genome of human.


name: BHMT1_HUMAN Betaine--homocysteine S-methyltransferase 1 (sprot)

description: A betaine--homocysteine S-methyltransferase 1 that is encoded in the genome of human.


name: S6A12_HUMAN Sodium- and chloride-dependent betaine transporter (sprot)

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


name: BHMT2_HUMAN S-methylmethionine--homocysteine S-methyltransferase BHMT2 (sprot)

description: A betaine--homocysteine S-methyltransferase 2 that is encoded in the genome of human.


BETAINE

A quaternary ammonium ion in which the substituents on nitrogen are methyl (three) and carboxymethyl.


name: Oxidation of Branched-Chain Fatty Acids,Metabolic


name: Phytanic Acid Peroxisomal Oxidation,Metabolic


Canavan disease

description: A neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay.


name: AMD_HUMAN Peptidyl-glycine alpha-amidating monooxygenase (sprot)

description: A peptidyl-glycine alpha-amidating monooxygenase that is encoded in the genome of human.


name: DOPO_HUMAN Dopamine beta-hydroxylase (sprot)

description: A dopamine beta-hydroxylase that is encoded in the genome of human.


name: PAHX_HUMAN Phytanoyl-CoA dioxygenase, peroxisomal (sprot)

description: A phytanoyl-CoA dioxygenase, peroxisomal that is encoded in the genome of human.


name: P4HA2_HUMAN Prolyl 4-hydroxylase subunit alpha-2 (sprot)

description: A prolyl 4-hydroxylase subunit alpha-2 that is encoded in the genome of human.


name: P4HA1_HUMAN Prolyl 4-hydroxylase subunit alpha-1 (sprot)

description: A prolyl 4-hydroxylase subunit alpha-1 that is encoded in the genome of human.


name: LPH_HUMAN Lactase/phlorizin hydrolase (sprot)

description: A lactase/phlorizin hydrolase that is encoded in the genome of human.


name: BODG_HUMAN Gamma-butyrobetaine dioxygenase (sprot)

description: A gamma-butyrobetaine dioxygenase that is encoded in the genome of human.


name: PLOD1_HUMAN Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 (sprot)

description: A procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 that is encoded in the genome of human.


name: PLOD2_HUMAN Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 (sprot)

description: A procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 that is encoded in the genome of human.


name: PLOD3_HUMAN Multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3 (sprot)

description: A multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3 that is encoded in the genome of human.


name: GSTO1_HUMAN Glutathione S-transferase omega-1 (sprot)

description: A glutathione S-transferase omega-1 that is encoded in the genome of human.


name: GSTO2_HUMAN Glutathione S-transferase omega-2 (sprot)

description: A glutathione S-transferase omega-2 that is encoded in the genome of human.


name: PDIA1_HUMAN Protein disulfide-isomerase (sprot)

description: A protein disulfide-isomerase that is encoded in the genome of human.


name: S23A1_HUMAN Solute carrier family 23 member 1 (sprot)

description: A solute carrier family 23 member 1 that is encoded in the genome of human.


name: S23A2_HUMAN Solute carrier family 23 member 2 (sprot)

description: A solute carrier family 23 member 2 that is encoded in the genome of human.


name: P3H1_HUMAN Prolyl 3-hydroxylase 1 (sprot)

description: A prolyl 3-hydroxylase 1 that is encoded in the genome of human.


name: P3H2_HUMAN Prolyl 3-hydroxylase 2 (sprot)

description: A prolyl 3-hydroxylase 2 that is encoded in the genome of human.


name: P3H3_HUMAN Prolyl 3-hydroxylase 3 (sprot)

description: A prolyl 3-hydroxylase 3 that is encoded in the genome of human.


name: S23A3_HUMAN Solute carrier family 23 member 3 (sprot)

description: A solute carrier family 23 member 3 that is encoded in the genome of human.


name: P4HA3_HUMAN Prolyl 4-hydroxylase subunit alpha-3 (sprot)

description: A prolyl 4-hydroxylase subunit alpha-3 that is encoded in the genome of human.


EGLN1_HUMAN Egl nine homolog 1 (sprot)

An egl nine homolog 1 that is encoded in the genome of human.


name: EGLN2_HUMAN Prolyl hydroxylase EGLN2 (sprot)

description: A prolyl hydroxylase EGLN2 that is encoded in the genome of human.


name: EGLN3_HUMAN Prolyl hydroxylase EGLN3 (sprot)

description: A prolyl hydroxylase EGLN3 that is encoded in the genome of human.


name: P4HTM_HUMAN Transmembrane prolyl 4-hydroxylase (sprot)

description: A transmembrane prolyl 4-hydroxylase that is encoded in the genome of human.


name: OGFD1_HUMAN Prolyl 3-hydroxylase OGFOD1 (sprot)

description: A prolyl 3-hydroxylase OGFOD1 that is encoded in the genome of human.


name: OGFD2_HUMAN 2-oxoglutarate and iron-dependent oxygenase domain-containing protein 2 (sprot)

description: A 2-oxoglutarate and iron-dependent oxygenase domain-containing protein 2 that is encoded in the genome of human.


L-ascorbic acid

The L-enantiomer of ascorbic acid and conjugate acid of L-ascorbate.


name: Carbamoyl Phosphate Synthetase Deficiency,Disease


name: Carnitine Palmitoyl Transferase Deficiency I,Disease


name: Carnitine Palmitoyl Transferase Deficiency II,Disease


name: Chloramphenicol Action Pathway,Drug Action


name: Clarithromycin Action Pathway,Drug Action


name: Cysteine Metabolism,Metabolic,The semi-essential amino aid cysteine is tightly regulated in the body to ensure proper levels for metabolism but maintaining levels below toxic thresholds. Cysteine can be obtained from diet or synthesized from  O-acetyl-L-serine. Cystine is the dimeric form of cysteine. Cysteine is a precursor for protein synthesis and an antioxidant. Impaired cysteine metabolism has been linked with neurodegenerative disorders.


name: Demeclocycline Action Pathway,Drug Action


name: Emtricitabine Action Pathway,Drug Action


name: Long Chain Acyl-CoA Dehydrogenase Deficiency (LCAD),Disease


name: Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD),Disease


name: Mercaptopurine Metabolism Pathway,Drug Metabolism


name: Mitochondrial Beta-Oxidation of Long Chain Saturated Fatty Acids,Metabolic


name: Mitochondrial Beta-Oxidation of Medium Chain Saturated Fatty Acids,Metabolic


name: Mitochondrial Beta-Oxidation of Short Chain Saturated Fatty Acids,Metabolic


name: Ornithine Transcarbamylase Deficiency (OTC Deficiency),Disease


name: Oxytetracycline Action Pathway,Drug Action


name: Pantothenate and CoA Biosynthesis,Metabolic


name: Rilpivirine Action Pathway,Drug Action,Rilpivirine is non-nucleoside reverse transcriptase inhibitor (NNRTI) which is used for the treatment of HIV-1 infections in treatment-naive patients. It binds to reverse transcriptase which results in a block in RNA and DNA- dependent DNA polymerase activities. One such activity is HIV-1 replication. Intracellular phosphorylation is not necessary for its antiviral activity.


name: Rolitetracycline Action Pathway,Drug Action


name: Roxithromycin Action Pathway,Drug Action


name: Short-Chain Acyl-CoA Dehydrogenase Deficiency (SCAD Deficiency),Disease


name: Short-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (SCHAD),Disease


name: Spectinomycin Action Pathway,Drug Action


name: Stavudine Action Pathway,Drug Action,Stavudine is a nucleoside reverse transcriptase inhibitor (NRTI) with activity against Human Immunodeficiency Virus Type 1 (HIV-1). Stavudine is phosphorylated to active metabolites that compete for incorporation into viral DNA. They inhibit the HIV reverse transcriptase enzyme competitively and act as a chain terminator of DNA synthesis.


name: Telithromycin Action Pathway,Drug Action


name: Troleandomycin Action Pathway,Drug Action


name: Valproic Acid Metabolism Pathway,Drug Metabolism


name: Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD),Disease


name: ENTP1_HUMAN Ectonucleoside triphosphate diphosphohydrolase 1 (sprot)

description: An ectonucleoside triphosphate diphosphohydrolase 1 that is encoded in the genome of human.


name: CANT1_HUMAN Soluble calcium-activated nucleotidase 1 (sprot)

description: A soluble calcium-activated nucleotidase 1 that is encoded in the genome of human.


name: ENTP3_HUMAN Ectonucleoside triphosphate diphosphohydrolase 3 (sprot)

description: An ectonucleoside triphosphate diphosphohydrolase 3 that is encoded in the genome of human.


name: ENPP1_HUMAN Ectonucleotide pyrophosphatase/phosphodiesterase family member 1 (sprot)

description: An ectonucleotide pyrophosphatase/phosphodiesterase family member 1 that is encoded in the genome of human.


name: ENPP3_HUMAN Ectonucleotide pyrophosphatase/phosphodiesterase family member 3 (sprot)

description: An ectonucleotide pyrophosphatase/phosphodiesterase family member 3 that is encoded in the genome of human.


name: SYFA_HUMAN Phenylalanine--tRNA ligase alpha subunit (sprot)

description: A eukaryotic-type phenylalanine--tRNA ligase alpha subunit that is encoded in the genome of human.


name: SYFM_HUMAN Phenylalanine--tRNA ligase, mitochondrial (sprot)

description: A phenylalanine--tRNA ligase, mitochondrial that is encoded in the genome of human.


name: BPNT1_HUMAN 3'(2'),5'-bisphosphate nucleotidase 1 (sprot)

description: A 3'(2'),5'-bisphosphate nucleotidase 1 that is encoded in the genome of human.


name: ADPGK_HUMAN ADP-dependent glucokinase (sprot)

description: An ADP-dependent glucokinase that is encoded in the genome of human.


name: PYGL_HUMAN Glycogen phosphorylase, liver form (sprot)

description: A glycogen phosphorylase, liver form that is encoded in the genome of human.


name: PYGM_HUMAN Glycogen phosphorylase, muscle form (sprot)

description: A glycogen phosphorylase, muscle form that is encoded in the genome of human.


name: PYGB_HUMAN Glycogen phosphorylase, brain form (sprot)

description: A glycogen phosphorylase, brain form that is encoded in the genome of human.


name: SYFB_HUMAN Phenylalanine--tRNA ligase beta subunit (sprot)

description: A eukaryotic-type phenylalanine--tRNA ligase beta subunit that is encoded in the genome of human.


name: UBE2A_HUMAN Ubiquitin-conjugating enzyme E2 A (sprot)

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


name: CNCG_HUMAN Retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma (sprot)

description: A retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma that is encoded in the genome of human.


name: KAD1_HUMAN Adenylate kinase isoenzyme 1 (sprot)

description: An adenylate kinase isoenzyme 1 that is encoded in the genome of human.


name: UBC12_HUMAN NEDD8-conjugating enzyme Ubc12 (sprot)

description: A NEDD8-conjugating enzyme Ubc12 that is encoded in the genome of human.


name: UB2L6_HUMAN Ubiquitin/ISG15-conjugating enzyme E2 L6 (sprot)

description: A ubiquitin/ISG15-conjugating enzyme E2 L6 that is encoded in the genome of human.


GARS_HUMAN Glycine--tRNA ligase (sprot)

A glycine--tRNA ligase that is encoded in the genome of human.


name: PRPS3_HUMAN Ribose-phosphate pyrophosphokinase 3 (sprot)

description: A ribose-phosphate pyrophosphokinase 3 that is encoded in the genome of human.


name: SYEP_HUMAN Bifunctional glutamate/proline--tRNA ligase (sprot)

description: A bifunctional glutamate/proline--tRNA ligase that is encoded in the genome of human.


name: ACSL4_HUMAN Long-chain-fatty-acid--CoA ligase 4 (sprot)

description: A long-chain-fatty-acid--CoA ligase 4 that is encoded in the genome of human.


name: PDE1A_HUMAN Dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A (sprot)

description: A dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A that is encoded in the genome of human.


name: UB2D1_HUMAN Ubiquitin-conjugating enzyme E2 D1 (sprot)

description: A ubiquitin-conjugating enzyme E2 D1 that is encoded in the genome of human.


name: KAD3_HUMAN GTP:AMP phosphotransferase AK3, mitochondrial (sprot)

description: A GTP:AMP phosphotransferase, mitochondrial that is encoded in the genome of human.


name: SYWC_HUMAN Tryptophan--tRNA ligase, cytoplasmic (sprot)

description: A tryptophan--tRNA ligase, cytoplasmic that is encoded in the genome of human.


name: PDE8A_HUMAN High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A (sprot)

description: A high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A that is encoded in the genome of human.


name: PDE1B_HUMAN Dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1B (sprot)

description: A dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1B that is encoded in the genome of human.


name: ACSL1_HUMAN Long-chain-fatty-acid--CoA ligase 1 (sprot)

description: A long-chain-fatty-acid--CoA ligase 1 that is encoded in the genome of human.


name: PDE3B_HUMAN cGMP-inhibited 3',5'-cyclic phosphodiesterase 3B (sprot)

description: A cGMP-inhibited 3',5'-cyclic phosphodiesterase 3B that is encoded in the genome of human.


name: UB2G1_HUMAN Ubiquitin-conjugating enzyme E2 G1 (sprot)

description: A ubiquitin-conjugating enzyme E2 G1 that is encoded in the genome of human.


name: SYQ_HUMAN Glutamine--tRNA ligase (sprot)

description: A glutamine--tRNA ligase that is encoded in the genome of human.


name: SYTC_HUMAN Threonine--tRNA ligase 1, cytoplasmic (sprot)

description: A threonine--tRNA ligase 1, cytoplasmic that is encoded in the genome of human.


name: ASNS_HUMAN Asparagine synthetase [glutamine-hydrolyzing] (sprot)

description: An asparagine synthetase [glutamine-hydrolyzing] that is encoded in the genome of human.


name: UB2E2_HUMAN Ubiquitin-conjugating enzyme E2 E2 (sprot)

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


name: PUR8_HUMAN Adenylosuccinate lyase (sprot)

description: An adenylosuccinate lyase that is encoded in the genome of human.


name: KAD4_HUMAN Adenylate kinase 4, mitochondrial (sprot)

description: An adenylate kinase 4, mitochondrial that is encoded in the genome of human.


name: UB2D2_HUMAN Ubiquitin-conjugating enzyme E2 D2 (sprot)

description: A ubiquitin-conjugating enzyme E2 D2 that is encoded in the genome of human.


DNLI4_HUMAN DNA ligase 4 (sprot)

A DNA ligase 4 that is encoded in the genome of human.


name: PDE7A_HUMAN High affinity 3',5'-cyclic-AMP phosphodiesterase 7A (sprot)

description: A high affinity 3',5'-cyclic-AMP phosphodiesterase 7A that is encoded in the genome of human.


name: SYRC_HUMAN Arginine--tRNA ligase, cytoplasmic (sprot)

description: An arginine--tRNA ligase, cytoplasmic that is encoded in the genome of human.


name: GUAA_HUMAN GMP synthase [glutamine-hydrolyzing] (sprot)

description: A GMP synthase [glutamine-hydrolyzing] that is encoded in the genome of human.


name: UB2E3_HUMAN Ubiquitin-conjugating enzyme E2 E3 (sprot)

description: A ubiquitin-conjugating enzyme E2 E3 that is encoded in the genome of human.


name: UBE2B_HUMAN Ubiquitin-conjugating enzyme E2 B (sprot)

description: A ubiquitin-conjugating enzyme E2 B that is encoded in the genome of human.


name: SYLM_HUMAN Leucine--tRNA ligase, mitochondrial (sprot)

description: A leucine--tRNA ligase, mitochondrial that is encoded in the genome of human.


AMPD3_HUMAN AMP deaminase 3 (sprot)

An AMP deaminase 3 that is encoded in the genome of human.


name: UB2J2_HUMAN Ubiquitin-conjugating enzyme E2 J2 (sprot)

description: A ubiquitin-conjugating enzyme E2 J2 that is encoded in the genome of human.


AMPD2_HUMAN AMP deaminase 2 (sprot)

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


name: PDE3A_HUMAN cGMP-inhibited 3',5'-cyclic phosphodiesterase 3A (sprot)

description: A cGMP-inhibited 3',5'-cyclic phosphodiesterase 3A that is encoded in the genome of human.


name: UB2L3_HUMAN Ubiquitin-conjugating enzyme E2 L3 (sprot)

description: A ubiquitin-conjugating enzyme E2 L3 that is encoded in the genome of human.


name: RTCA_HUMAN RNA 3'-terminal phosphate cyclase (sprot)

description: An RNA 3'-terminal phosphate cyclase that is encoded in the genome of human.


KAD7_HUMAN Adenylate kinase 7 (sprot)

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


name: PDE10_HUMAN cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A (sprot)

description: A cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A that is encoded in the genome of human.


name: PDE1C_HUMAN Dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C (sprot)

description: A dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C that is encoded in the genome of human.


name: SYYC_HUMAN Tyrosine--tRNA ligase, cytoplasmic (sprot)

description: A tyrosine--tRNA ligase, cytoplasmic that is encoded in the genome of human.


DNLI3_HUMAN DNA ligase 3 (sprot)

A DNA ligase 3 that is encoded in the genome of human.


name: SYDC_HUMAN Aspartate--tRNA ligase, cytoplasmic (sprot)

description: An aspartate--tRNA ligase, cytoplasmic that is encoded in the genome of human.


name: PDE4B_HUMAN 3',5'-cyclic-AMP phosphodiesterase 4B (sprot)

description: A 3',5'-cyclic-AMP phosphodiesterase 4B that is encoded in the genome of human.


name: UB2D3_HUMAN Ubiquitin-conjugating enzyme E2 D3 (sprot)

description: A ubiquitin-conjugating enzyme E2 D3 that is encoded in the genome of human.


name: SYNC_HUMAN Asparagine--tRNA ligase, cytoplasmic (sprot)

description: An asparagine--tRNA ligase, cytoplasmic that is encoded in the genome of human.


name: PDE7B_HUMAN 3',5'-cyclic-AMP phosphodiesterase 7B (sprot)

description: A 3',5'-cyclic-AMP phosphodiesterase 7B that is encoded in the genome of human.


SYK_HUMAN Lysine--tRNA ligase (sprot)

A eukaryotic-type lysine--tRNA ligase that is encoded in the genome of human.


name: SYIC_HUMAN Isoleucine--tRNA ligase, cytoplasmic (sprot)

description: An isoleucine--tRNA ligase, cytoplasmic that is encoded in the genome of human.


A bis(5'-adenosyl)-triphosphatase that is encoded in the genome of human.


name: PDE9A_HUMAN High affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A (sprot)

description: A high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A that is encoded in the genome of human.


name: PDE2A_HUMAN cGMP-dependent 3',5'-cyclic phosphodiesterase (sprot)

description: A cGMP-dependent 3',5'-cyclic phosphodiesterase that is encoded in the genome of human.


name: UBA1_HUMAN Ubiquitin-like modifier-activating enzyme 1 (sprot)

description: A ubiquitin-like modifier-activating enzyme 1 that is encoded in the genome of human.


name: SYYM_HUMAN Tyrosine--tRNA ligase, mitochondrial (sprot)

description: A tyrosine--tRNA ligase, mitochondrial that is encoded in the genome of human.


name: UB2E1_HUMAN Ubiquitin-conjugating enzyme E2 E1 (sprot)

description: A ubiquitin-conjugating enzyme E2 E1 that is encoded in the genome of human.


name: AP4A_HUMAN Bis(5'-nucleosyl)-tetraphosphatase [asymmetrical] (sprot)

description: A bis(5'-nucleosyl)-tetraphosphatase [asymmetrical] that is encoded in the genome of human.


name: ACSL6_HUMAN Long-chain-fatty-acid--CoA ligase 6 (sprot)

description: A long-chain-fatty-acid--CoA ligase 6 that is encoded in the genome of human.


name: SYMC_HUMAN Methionine--tRNA ligase, cytoplasmic (sprot)

description: A methionine--tRNA ligase, cytoplasmic that is encoded in the genome of human.


name: SYAC_HUMAN Alanine--tRNA ligase, cytoplasmic (sprot)

description: An alanine--tRNA ligase, cytoplasmic that is encoded in the genome of human.


name: SYWM_HUMAN Tryptophan--tRNA ligase, mitochondrial (sprot)

description: A tryptophan--tRNA ligase, mitochondrial that is encoded in the genome of human.


name: NUDT5_HUMAN ADP-sugar pyrophosphatase (sprot)

description: An ADP-sugar pyrophosphatase that is encoded in the genome of human.


name: PRPS1_HUMAN Ribose-phosphate pyrophosphokinase 1 (sprot)

description: A ribose-phosphate pyrophosphokinase 1 that is encoded in the genome of human.


name: SYSM_HUMAN Serine--tRNA ligase, mitochondrial (sprot)

description: A serine--tRNA ligase, mitochondrial that is encoded in the genome of human.


name: PDE8B_HUMAN High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B (sprot)

description: A high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B that is encoded in the genome of human.


name: PDE4C_HUMAN 3',5'-cyclic-AMP phosphodiesterase 4C (sprot)

description: A 3',5'-cyclic-AMP phosphodiesterase 4C that is encoded in the genome of human.


name: PRPS2_HUMAN Ribose-phosphate pyrophosphokinase 2 (sprot)

description: A ribose-phosphate pyrophosphokinase 2 that is encoded in the genome of human.


name: TPK1_HUMAN Thiamin pyrophosphokinase 1 (sprot)

description: A thiamin pyrophosphokinase 1 that is encoded in the genome of human.


name: UBC9_HUMAN SUMO-conjugating enzyme UBC9 (sprot)

description: A SUMO-conjugating enzyme UBC9 that is encoded in the genome of human.


name: PDE4D_HUMAN 3',5'-cyclic-AMP phosphodiesterase 4D (sprot)

description: A 3',5'-cyclic-AMP phosphodiesterase 4D that is encoded in the genome of human.


name: CNRG_HUMAN Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma (sprot)

description: A retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma that is encoded in the genome of human.


name: NUDT9_HUMAN ADP-ribose pyrophosphatase, mitochondrial (sprot)

description: An ADP-ribose pyrophosphatase, mitochondrial that is encoded in the genome of human.


ADK_HUMAN Adenosine kinase (sprot)

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


name: PDE6D_HUMAN Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta (sprot)

description: A retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta that is encoded in the genome of human.


name: SYHM_HUMAN Histidine--tRNA ligase, mitochondrial (sprot)

description: A histidine--tRNA ligase, mitochondrial that is encoded in the genome of human.


name: UB2J1_HUMAN Ubiquitin-conjugating enzyme E2 J1 (sprot)

description: A ubiquitin-conjugating enzyme E2 J1 that is encoded in the genome of human.


name: ACSL5_HUMAN Long-chain-fatty-acid--CoA ligase 5 (sprot)

description: A long-chain-fatty-acid--CoA ligase 5 that is encoded in the genome of human.


name: HARS1_HUMAN Histidine--tRNA ligase, cytoplasmic (sprot)

description: A histidyl-tRNA synthetase, cytoplasmic that is encoded in the genome of human.


name: SYSC_HUMAN Serine--tRNA ligase, cytoplasmic (sprot)

description: A serine--tRNA ligase, cytoplasmic that is encoded in the genome of human.


name: ACSL3_HUMAN Fatty acid CoA ligase Acsl3 (sprot)

description: A fatty acid CoA ligase Acsl3 that is encoded in the genome of human.


name: SYLC_HUMAN Leucine--tRNA ligase, cytoplasmic (sprot)

description: A leucine--tRNA ligase, cytoplasmic that is encoded in the genome of human.


name: UBE2C_HUMAN Ubiquitin-conjugating enzyme E2 C (sprot)

description: A ubiquitin-conjugating enzyme E2 C that is encoded in the genome of human.


name: PDE4A_HUMAN 3',5'-cyclic-AMP phosphodiesterase 4A (sprot)

description: A 3',5'-cyclic-AMP phosphodiesterase 4A that is encoded in the genome of human.


SYVC_HUMAN Valine--tRNA ligase (sprot)

A valine--tRNA ligase that is encoded in the genome of human.


name: KAD5_HUMAN Adenylate kinase isoenzyme 5 (sprot)

description: An adenylate kinase isoenzyme 5 that is encoded in the genome of human.


name: SPS1_HUMAN Selenide, water dikinase 1 (sprot)

description: A selenide, water dikinase 1 that is encoded in the genome of human.


name: UBE2N_HUMAN Ubiquitin-conjugating enzyme E2 N (sprot)

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