xanthinuria type I

description: A rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer.


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

description: Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurologic involvement (mild PRPP synthetase superactivity).


hypoxanthine

A purine nucleobase that consists of purine bearing an oxo substituent at position 6.


hawkinsinuria

description: Hawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine.


name: MOT8_HUMAN Monocarboxylate transporter 8 (sprot)

description: A monocarboxylate transporter 8 that is encoded in the genome of human.


name: FGFR1_HUMAN Fibroblast growth factor receptor 1 (sprot)

description: A fibroblast growth factor receptor 1 that is encoded in the genome of human.


name: IYD1_HUMAN Iodotyrosine deiodinase 1 (sprot)

description: An iodotyrosine deiodinase 1 that is encoded in the genome of human.


name: TTL_HUMAN Tubulin--tyrosine ligase (sprot)

description: A tubulin--tyrosine ligase that is encoded in the genome of human.


L-tyrosine

An optically active form of tyrosine having L-configuration.


name: pterin-4 alpha-carbinolamine dehydratase 1 deficiency

description: Pterin-4 alpha-carbinolamine dehydratase 1 (PCBD1) deficiency is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency, characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological development is normal with dietary control of blood phenyalanine. PCBD1 is inherited in an autosomal recessive manner.


name: GTP cyclohydrolase I deficiency with hyperphenylalaninemia

description: An autosomal recessive condition caused by mutation(s) in the GCH1 gene, encoding GTP cyclohydrolase 1. It is characterized by hyperphenylalaninemia and GTP cyclohydrolase 1-deficient dopa-responsive dystonia.


BH4-deficient hyperphenylalaninemia A

description: An autosomal recessive condition caused by mutation(s) in the PTS gene, encoding 6-pyruvoyl tetrahydrobiopterin synthase. It is characterized by BH4-defecient hyperphenylalanemia, depletion of dopamine and serotonin, and progressive cognitive and motor deficits.


PERL_HUMAN Lactoperoxidase (sprot)

A lactoperoxidase that is encoded in the genome of human.


name: PERE_HUMAN Eosinophil peroxidase (sprot)

description: An eosinophil peroxidase that is encoded in the genome of human.


name: LAT2_HUMAN Large neutral amino acids transporter small subunit 2 (sprot)

description: A large neutral amino acids transporter small subunit 2 that is encoded in the genome of human.


name: ACE2_HUMAN Angiotensin-converting enzyme 2 (sprot)

description: An angiotensin-converting enzyme 2 that is encoded in the genome of human.


L-phenylalanine

The L-enantiomer of phenylalanine.


name: encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome

description: Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound.


name: mitochondrial pyruvate carrier deficiency

description: An autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation.


KYNU_HUMAN Kynureninase (sprot)

A kynureninase that is encoded in the genome of human.


name: PGRP1_HUMAN Peptidoglycan recognition protein 1 (sprot)

description: A peptidoglycan recognition protein 1 that is encoded in the genome of human.


NFS1_HUMAN Cysteine desulfurase (sprot)

A cysteine desulfurase NFS1 that is encoded in the genome of human.


name: S38A3_HUMAN Sodium-coupled neutral amino acid transporter 3 (sprot)

description: A sodium-coupled neutral amino acid transporter 3 that is encoded in the genome of human.


name: SATT_HUMAN Neutral amino acid transporter A (sprot)

description: A neutral amino acid transporter A that is encoded in the genome of human.


name: MOCOS_HUMAN Molybdenum cofactor sulfurase (sprot)

description: A molybdenum cofactor sulfurase that is encoded in the genome of human.


name: PGRP3_HUMAN Peptidoglycan recognition protein 3 (sprot)

description: A peptidoglycan recognition protein 3 that is encoded in the genome of human.


name: PGRP4_HUMAN Peptidoglycan recognition protein 4 (sprot)

description: A peptidoglycan recognition protein 4 that is encoded in the genome of human.


name: PGRP2_HUMAN N-acetylmuramoyl-L-alanine amidase (sprot)

description: An N-acetylmuramoyl-L-alanine amidase that is encoded in the genome of human.


L-alanine

The L-enantiomer of alanine.


name: glutathione synthetase deficiency with 5-oxoprolinuria


hyperprolinemia type 1

description: Hyperprolinaemia type I is an inborn error of proline metabolism characterized by elevated levels of proline in the plasma and urine. The prevalence is unknown. The disorder is generally considered to be benign but associations with renal abnormalities, epileptic seizures, and other neurological manifestations, as well as certain forms of schizophrenia have been reported. It is transmitted as an autosomal recessive trait and is caused by mutations in the proline dehydrogenase or proline oxidase gene (PRODH or POX, 22q11.2).


hyperprolinemia type 2

description: Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay.


name: P5CR1_HUMAN Pyrroline-5-carboxylate reductase 1, mitochondrial (sprot)

description: A pyrroline-5-carboxylate reductase 1, mitochondrial that is encoded in the genome of human.


name: P5CR2_HUMAN Pyrroline-5-carboxylate reductase 2 (sprot)

description: A pyrroline-5-carboxylate reductase 2 that is encoded in the genome of human.


name: PROD_HUMAN Proline dehydrogenase 1, mitochondrial (sprot)

description: A proline dehydrogenase 1, mitochondrial that is encoded in the genome of human.


name: P5CR3_HUMAN Pyrroline-5-carboxylate reductase 3 (sprot)

description: A pyrroline-5-carboxylate reductase 3 that is encoded in the genome of human.


name: PLPHP_HUMAN Pyridoxal phosphate homeostasis protein (sprot)

description: A pyridoxal phosphate homeostasis protein PLPBP that is encoded in the genome of human.


name: Q4W8W1_HUMAN Pyrroline-5-carboxylate reductase (trembl)


name: SC6A7_HUMAN Sodium-dependent proline transporter (sprot)

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


name: S6A14_HUMAN Sodium- and chloride-dependent neutral and basic amino acid transporter B(0+) (sprot)

description: A sodium- and chloride-dependent neutral and basic amino acid transporter B(0+) that is encoded in the genome of human.


name: HYPDH_HUMAN Hydroxyproline dehydrogenase (sprot)

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


name: TRPM1_HUMAN Transient receptor potential cation channel subfamily M member 1 (sprot)

description: A transient receptor potential cation channel subfamily M member 1 that is encoded in the genome of human.


name: T3HPD_HUMAN Trans-3-hydroxy-L-proline dehydratase (sprot)

description: A trans-3-hydroxy-L-proline dehydratase that is encoded in the genome of human.


name: PPIF_HUMAN Peptidyl-prolyl cis-trans isomerase F, mitochondrial (sprot)

description: A peptidyl-prolyl cis-trans isomerase F, mitochondrial that is encoded in the genome of human.


name: PPIA_HUMAN Peptidyl-prolyl cis-trans isomerase A (sprot)

description: A peptidyl-prolyl cis-trans isomerase A that is encoded in the genome of human.


name: PPIB_HUMAN Peptidyl-prolyl cis-trans isomerase B (sprot)

description: A eukaryotic peptidyl-prolyl cis-trans isomerase B that is encoded in the genome of human.


name: PPIG_HUMAN Peptidyl-prolyl cis-trans isomerase G (sprot)

description: A peptidyl-prolyl cis-trans isomerase G that is encoded in the genome of human.


name: PPIH_HUMAN Peptidyl-prolyl cis-trans isomerase H (sprot)

description: A peptidyl-prolyl cis-trans isomerase H that is encoded in the genome of human.


L-proline

Pyrrolidine in which the pro-S hydrogen at position 2 is substituted by a carboxylic acid group. L-Proline is the only one of the twenty DNA-encoded amino acids which has a secondary amino group alpha to the carboxyl group. It is an essential component of collagen and is important for proper functioning of joints and tendons. It also helps maintain and strengthen heart muscles.


AMY2B_HUMAN Alpha-amylase 2B (sprot)

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


An alpha-D-glucosyl-(1->4)-D-mannopyranose in which the anomeric hydroxy group has alpha configuration.


METHYLAMINE

The simplest of the methylamines, consisting of ammonia bearing a single methyl substituent.


name: THNS1_HUMAN Threonine synthase-like 1 (sprot)

description: A threonine synthase-like 1 that is encoded in the genome of human.


name: HACL2_HUMAN 2-hydroxyacyl-CoA lyase 2 (sprot)

description: A 2-hydroxyacyl-CoA lyase 2 that is encoded in the genome of human.


L-threonine

An optically active form of threonine having L-configuration.


name: RPN1_HUMAN Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1 (sprot)

description: A dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1 that is encoded in the genome of human.


name: OST48_HUMAN Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit (sprot)

description: A dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit that is encoded in the genome of human.


name: RPN2_HUMAN Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 2 (sprot)

description: A dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 2 that is encoded in the genome of human.


name: AAAT_HUMAN Neutral amino acid transporter B(0) (sprot)

description: A neutral amino acid transporter B(0) that is encoded in the genome of human.


name: STT3A_HUMAN Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A (sprot)

description: A dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A that is encoded in the genome of human.


name: DAD1_HUMAN Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit DAD1 (sprot)

description: A dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit DAD1 that is encoded in the genome of human.


name: STT3B_HUMAN Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B (sprot)

description: A dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B that is encoded in the genome of human.


PA21B_HUMAN Phospholipase A2 (sprot)

A phospholipase A2 that is encoded in the genome of human.


name: PPAP_HUMAN Prostatic acid phosphatase (sprot)

description: A prostatic acid phosphatase that is encoded in the genome of human.


DNAS1_HUMAN Deoxyribonuclease-1 (sprot)

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


MA2A1_HUMAN Alpha-mannosidase 2 (sprot)

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


name: MA1A2_HUMAN Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB (sprot)

description: A mannosyl-oligosaccharide 1,2-alpha-mannosidase IB that is encoded in the genome of human.


name: MA1B1_HUMAN Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase (sprot)

description: An endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase that is encoded in the genome of human.


name: MA1A1_HUMAN Mannosyl-oligosaccharide 1,2-alpha-mannosidase IA (sprot)

description: A mannosyl-oligosaccharide 1,2-alpha-mannosidase IA that is encoded in the genome of human.


name: PGH1_HUMAN Prostaglandin G/H synthase 1 (sprot)

description: A prostaglandin G/H synthase 1 that is encoded in the genome of human.


name: GALT1_HUMAN Polypeptide N-acetylgalactosaminyltransferase 1 (sprot)

description: A polypeptide N-acetylgalactosaminyltransferase 1 that is encoded in the genome of human.


name: IGF1R_HUMAN Insulin-like growth factor 1 receptor (sprot)

description: An insulin-like growth factor 1 receptor that is encoded in the genome of human.


LYSC_HUMAN Lysozyme C (sprot)

A lysozyme C that is encoded in the genome of human.


name: ALG3_HUMAN Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase (sprot)

description: A dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase that is encoded in the genome of human.


name: DPP4_HUMAN Dipeptidyl peptidase 4 (sprot)

description: A dipeptidyl peptidase 4 that is encoded in the genome of human.


name: IL3RB_HUMAN Cytokine receptor common subunit beta (sprot)

description: A cytokine receptor common subunit beta that is encoded in the genome of human.


HEP2_HUMAN Heparin cofactor 2 (sprot)

A heparin cofactor 2 that is encoded in the genome of human.


name: APOH_HUMAN Beta-2-glycoprotein 1 (sprot)

description: A beta-2-glycoprotein 1 that is encoded in the genome of human.


ANT3_HUMAN Antithrombin-III (sprot)

An antithrombin-III that is encoded in the genome of human.


name: MPRI_HUMAN Cation-independent mannose-6-phosphate receptor (sprot)

description: A cation-independent mannose-6-phosphate receptor that is encoded in the genome of human.


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


TRFL_HUMAN Lactotransferrin (sprot)

A lactotransferrin that is encoded in the genome of human.


name: LDLR_HUMAN Low-density lipoprotein receptor (sprot)

description: A low-density lipoprotein receptor that is encoded in the genome of human.


OPSD_HUMAN Rhodopsin (sprot)

A rhodopsin that is encoded in the genome of human.


CATD_HUMAN Cathepsin D (sprot)

A cathepsin D that is encoded in the genome of human.


LEG1_HUMAN Galectin-1 (sprot)

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


name: SIGL7_HUMAN Sialic acid-binding Ig-like lectin 7 (sprot)

description: A sialic acid-binding Ig-like lectin 7 that is encoded in the genome of human.


name: MBL2_HUMAN Mannose-binding protein C (sprot)

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


GRAB_HUMAN Granzyme B (sprot)

A granzyme B that is encoded in the genome of human.


CD209_HUMAN CD209 antigen (sprot)

A CD209 molecule that is encoded in the genome of human.


IFNB_HUMAN Interferon beta (sprot)

An interferon beta 1 that is encoded in the genome of human.


name: MA1C1_HUMAN Mannosyl-oligosaccharide 1,2-alpha-mannosidase IC (sprot)

description: A mannosyl-oligosaccharide 1,2-alpha-mannosidase IC that is encoded in the genome of human.


name: C1R_HUMAN Complement C1r subcomponent (sprot)

description: A complement C1r subcomponent that is encoded in the genome of human.


name: ANPRC_HUMAN Atrial natriuretic peptide receptor 3 (sprot)

description: An atrial natriuretic peptide receptor 3 that is encoded in the genome of human.


name: GNPTA_HUMAN N-acetylglucosamine-1-phosphotransferase subunits alpha/beta (sprot)

description: An N-acetylglucosamine-1-phosphotransferase subunits alpha/beta that is encoded in the genome of human.


CBPD_HUMAN Carboxypeptidase D (sprot)

A carboxypeptidase D that is encoded in the genome of human.


name: MA2A2_HUMAN Alpha-mannosidase 2x (sprot)

description: An alpha-mannosidase 2x that is encoded in the genome of human.


name: MA2B1_HUMAN Lysosomal alpha-mannosidase (sprot)

description: A lysosomal alpha-mannosidase that is encoded in the genome of human.


name: MA2B2_HUMAN Epididymis-specific alpha-mannosidase (sprot)

description: An epididymis-specific alpha-mannosidase that is encoded in the genome of human.


alpha-D-mannose

D-Mannopyranose having alpha-configuration at the anomeric centre.


saccharopinuria

description: Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria.


name: ACDSB_HUMAN Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial (sprot)

description: A short/branched chain specific acyl-CoA dehydrogenase, mitochondrial that is encoded in the genome of human.


L-isoleucine

The L-enantiomer of isoleucine.


FCSK_HUMAN L-fucose kinase (sprot)

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


name: FUCO_HUMAN Tissue alpha-L-fucosidase (sprot)

description: A tissue alpha-L-fucosidase that is encoded in the genome of human.


name: FUCO2_HUMAN Plasma alpha-L-fucosidase (sprot)

description: A plasma alpha-L-fucosidase that is encoded in the genome of human.


FUCM_HUMAN Fucose mutarotase (sprot)

A fucose mutarotase that is encoded in the genome of human.


alpha-L-fucose

An L-fucopyranose having alpha-configuration at the anomeric centre.


name: ENTP4_HUMAN Ectonucleoside triphosphate diphosphohydrolase 4 (sprot)

description: An ectonucleoside triphosphate diphosphohydrolase 4 that is encoded in the genome of human.


name: ENTP6_HUMAN Ectonucleoside triphosphate diphosphohydrolase 6 (sprot)

description: An ectonucleoside triphosphate diphosphohydrolase 6 that is encoded in the genome of human.


name: ENTP5_HUMAN Nucleoside diphosphate phosphatase ENTPD5 (sprot)

description: A nucleoside diphosphate phosphatase ENTPD5 that is encoded in the genome of human.


name: PURA2_HUMAN Adenylosuccinate synthetase isozyme 2 (sprot)

description: An adenylosuccinate synthetase isozyme 2 that is encoded in the genome of human.


name: IMDH2_HUMAN Inosine-5'-monophosphate dehydrogenase 2 (sprot)

description: An inosine-5'-monophosphate dehydrogenase 2 that is encoded in the genome of human.


name: PUR9_HUMAN Bifunctional purine biosynthesis protein ATIC (sprot)

description: A bifunctional purine biosynthesis protein ATIC that is encoded in the genome of human.


name: IMDH1_HUMAN Inosine-5'-monophosphate dehydrogenase 1 (sprot)

description: An inosine-5'-monophosphate dehydrogenase 1 that is encoded in the genome of human.


name: PURA1_HUMAN Adenylosuccinate synthetase isozyme 1 (sprot)

description: An adenylosuccinate synthetase isozyme 1 that is encoded in the genome of human.


5'-inosine monophosphate

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


maleic acid

A butenedioic acid in which the double bond has cis- (Z)-configuration.


Methylhistidine Metabolism,Metabolic

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


name: HEMK1_HUMAN MTRF1L release factor glutamine methyltransferase (sprot)

description: An MTRF1L release factor glutamine methyltransferase that is encoded in the genome of human.


name: MET2B_HUMAN tRNA N(3)-methylcytidine methyltransferase METTL2B (sprot)

description: A tRNA N(3)-methylcytidine methyltransferase METTL2B that is encoded in the genome of human.


name: METL6_HUMAN tRNA N(3)-methylcytidine methyltransferase METTL6 (sprot)

description: A tRNA N(3)-methylcytidine methyltransferase METTL6 that is encoded in the genome of human.


name: BUD23_HUMAN Probable 18S rRNA (guanine-N(7))-methyltransferase (sprot)

description: A probable 18S rRNA (guanine-N(7))-methyltransferase that is encoded in the genome of human.


L-histidine

The L-enantiomer of the amino acid histidine.


name: S15A1_HUMAN Solute carrier family 15 member 1 (sprot)

description: A solute carrier family 15 member 1 that is encoded in the genome of human.


name: 4F2_HUMAN Amino acid transporter heavy chain SLC3A2 (sprot)

description: An amino acid transporter heavy chain SLC3A2 that is encoded in the genome of human.


levodopa

An optically active form of dopa having L-configuration. Used to treat the stiffness, tremors, spasms, and poor muscle control of Parkinson's disease


lysinuric protein intolerance

description: Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by disturbance in amino acid metabolism.


cystinuria

description: Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones.


name: DOT1L_HUMAN Histone-lysine N-methyltransferase, H3 lysine-79 specific (sprot)

description: A histone-lysine N-methyltransferase, H3 lysine-79 specific that is encoded in the genome of human.


name: SETD7_HUMAN Histone-lysine N-methyltransferase SETD7 (sprot)

description: A histone-lysine N-methyltransferase SETD7 that is encoded in the genome of human.


name: NSD1_HUMAN Histone-lysine N-methyltransferase, H3 lysine-36 specific (sprot)

description: A histone-lysine N-methyltransferase, H3 lysine-36 specific that is encoded in the genome of human.


name: SETB1_HUMAN Histone-lysine N-methyltransferase SETDB1 (sprot)

description: A histone-lysine N-methyltransferase SETDB1 that is encoded in the genome of human.


name: EHMT2_HUMAN Histone-lysine N-methyltransferase EHMT2 (sprot)

description: A histone-lysine N-methyltransferase, H3 lysine-9 specific 3 that is encoded in the genome of human.


name: EHMT1_HUMAN Histone-lysine N-methyltransferase EHMT1 (sprot)

description: A histone-lysine N-methyltransferase, H3 lysine-9 specific 5 that is encoded in the genome of human.


name: PRDM2_HUMAN PR domain zinc finger protein 2 (sprot)

description: A PR domain zinc finger protein 2 that is encoded in the genome of human.


name: KMT2A_HUMAN Histone-lysine N-methyltransferase 2A (sprot)

description: A histone-lysine N-methyltransferase 2A that is encoded in the genome of human.


name: KMT2C_HUMAN Histone-lysine N-methyltransferase 2C (sprot)

description: A histone-lysine N-methyltransferase 2C that is encoded in the genome of human.


name: EZH2_HUMAN Histone-lysine N-methyltransferase EZH2 (sprot)

description: A histone-lysine N-methyltransferase EZH2 that is encoded in the genome of human.


name: KMT2D_HUMAN Histone-lysine N-methyltransferase 2D (sprot)

description: A histone-lysine N-methyltransferase 2D that is encoded in the genome of human.


name: KMT2B_HUMAN Histone-lysine N-methyltransferase 2B (sprot)

description: A histone-lysine N-methyltransferase 2B that is encoded in the genome of human.


name: NSD2_HUMAN Histone-lysine N-methyltransferase NSD2 (sprot)

description: A histone-lysine N-methyltransferase NSD2 that is encoded in the genome of human.


name: NSD3_HUMAN Histone-lysine N-methyltransferase NSD3 (sprot)

description: A histone-lysine N-methyltransferase NSD3 that is encoded in the genome of human.


name: SETD2_HUMAN Histone-lysine N-methyltransferase SETD2 (sprot)

description: A histone-lysine N-methyltransferase SETD2 that is encoded in the genome of human.


name: KDM2A_HUMAN Lysine-specific demethylase 2A (sprot)

description: A lysine-specific demethylase 2A that is encoded in the genome of human.


name: KDM2B_HUMAN Lysine-specific demethylase 2B (sprot)

description: A lysine-specific demethylase 2B that is encoded in the genome of human.


L-lysine

An L-alpha-amino acid zwitterion obtained by transfer of a proton from the carboxy to the amino group of L-lysine; major species at pH 7.3.


congenital lactase deficiency

description: Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula.


lactose

The alpha-anomer of lactose.


name: SPTC1_HUMAN Serine palmitoyltransferase 1 (sprot)

description: A serine palmitoyltransferase 1 that is encoded in the genome of human.


name: SERB_HUMAN Phosphoserine phosphatase (sprot)

description: A phosphoserine phosphatase that is encoded in the genome of human.


name: SPTC2_HUMAN Serine palmitoyltransferase 2 (sprot)

description: A serine palmitoyltransferase 2 that is encoded in the genome of human.


name: SPTC3_HUMAN Serine palmitoyltransferase 3 (sprot)

description: A serine palmitoyltransferase 3 that is encoded in the genome of human.


name: SERC1_HUMAN Serine incorporator 1 (sprot)

description: A serine incorporator 1 that is encoded in the genome of human.


L-serine

The L-enantiomer of serine.


name: SUCA_HUMAN Succinate--CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial (sprot)

description: A succinate--CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial that is encoded in the genome of human.


name: PCKGM_HUMAN Phosphoenolpyruvate carboxykinase [GTP], mitochondrial (sprot)

description: A phosphoenolpyruvate carboxykinase [GTP], mitochondrial that is encoded in the genome of human.


name: SUCB2_HUMAN Succinate--CoA ligase [GDP-forming] subunit beta, mitochondrial (sprot)

description: A succinate--CoA ligase [GDP-forming] subunit beta, mitochondrial that is encoded in the genome of human.


name: PCKGC_HUMAN Phosphoenolpyruvate carboxykinase, cytosolic [GTP] (sprot)

description: A phosphoenolpyruvate carboxykinase, cytosolic [GTP] that is encoded in the genome of human.


name: SUCB1_HUMAN Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial (sprot)

description: A succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial that is encoded in the genome of human.


ITP

The inosine phosphate that has a triphosphate group at the 5'-position. It is an intermediate in the metabolism of purine.


Kearns-Sayre syndrome

description: Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block.


description: Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterized by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established.


MERRF syndrome

description: A condition that can be caused by mutation(s) in more than one mitochondrial gene. It is characterized by myoclonic epilepsy and ragged-red fibers present on muscle biopsy.


name: hereditary myopathy with lactic acidosis due to ISCU deficiency

description: Aconitase deficiency is characterized by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase.


GRACILE syndrome

description: GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E).


name: mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency

description: A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.


name: combined oxidative phosphorylation defect type 11

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the RMND1 gene.


name: leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome

description: Leukoencephalopathy-thalamus and brainstem anomalies-high lactate (LTBL) syndrome is a rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward.


name: developmental and epileptic encephalopathy, 39

description: A rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.


MELAS syndrome

description: MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.


Sengers syndrome

description: Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.


name: acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins

description: Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia.


name: combined oxidative phosphorylation defect type 14

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the FARS2 gene.


description: Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterized by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter.


name: congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

description: Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome, is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.


name: mitochondrial myopathy with reversible cytochrome C oxidase deficiency


name: mitochondrial complex IV deficiency, nuclear type 1


coenzyme Q10 deficiency, primary, 1

description: Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ2 gene.


name: mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

description: Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterized by the association of a mitochondrial encephalomyopathy and an aminoacidopathy. It has been described in two brothers presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. Mitochondria morphology was found to be abnormal on muscle biopsy. Transmission is likely to be linked to maternal mitochondrial DNA.


name: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome

description: Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the SERAC1 gene.


3-methylglutaconic aciduria type 5

description: A syndrome characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.


hereditary fructose intolerance

description: Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism, resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated.


L-lactic acid

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


name: PUR6_HUMAN Bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase (sprot)

description: A bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase that is encoded in the genome of human.


An N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase that is encoded in the genome of human.


name: ASPH_HUMAN Aspartyl/asparaginyl beta-hydroxylase (sprot)

description: An aspartyl/asparaginyl beta-hydroxylase that is encoded in the genome of human.


name: S2513_HUMAN Electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial (sprot)

description: An electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial that is encoded in the genome of human.


name: S2512_HUMAN Electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial (sprot)

description: An electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial that is encoded in the genome of human.


name: NAT8L_HUMAN N-acetylaspartate synthetase (sprot)

description: An N-acetylaspartate synthetase that is encoded in the genome of human.


L-aspartic acid

The L-enantiomer of aspartic acid.


name: SLC31_HUMAN Amino acid transporter heavy chain SLC3A1 (sprot)

description: An amino acid transporter heavy chain SLC3A1 that is encoded in the genome of human.


name: BAT1_HUMAN b(0,+)-type amino acid transporter 1 (sprot)

description: A b(0,+)-type amino acid transporter 1 that is encoded in the genome of human.


CTNS_HUMAN Cystinosin (sprot)

A cystinosin that is encoded in the genome of human.


L-cystine

The L-enantiomer of the sulfur-containing amino acid cystine.


name: IDHP_HUMAN Isocitrate dehydrogenase [NADP], mitochondrial (sprot)

description: An isocitrate dehydrogenase [NADP], mitochondrial that is encoded in the genome of human.


name: IDH3B_HUMAN Isocitrate dehydrogenase [NAD] subunit beta, mitochondrial (sprot)

description: An isocitrate dehydrogenase [NAD] subunit beta, mitochondrial that is encoded in the genome of human.


name: IDHC_HUMAN Isocitrate dehydrogenase [NADP] cytoplasmic (sprot)

description: An isocitrate dehydrogenase [NADP] cytoplasmic that is encoded in the genome of human.


name: IDH3A_HUMAN Isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial (sprot)

description: An isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial that is encoded in the genome of human.


name: IDH3G_HUMAN Isocitrate dehydrogenase [NAD] subunit gamma, mitochondrial (sprot)

description: An isocitrate dehydrogenase [NAD] subunit gamma, mitochondrial that is encoded in the genome of human.


ISOCITRATE

A tricarboxylic acid that is propan-1-ol with a hydrogen at each of the 3 carbon positions replaced by a carboxy group.


ANSERINE

A dipeptide comprising of beta-alanine and 3-methyl-L-histidine units.


name: S29A4_HUMAN Equilibrative nucleoside transporter 4 (sprot)

description: An equilibrative nucleoside transporter 4 that is encoded in the genome of human.


inosine

A purine nucleoside in which hypoxanthine is attached to ribofuranose via a beta-N(9)-glycosidic bond.


INDOLE-3-ACETIC ACID

A monocarboxylic acid that is acetic acid in which one of the methyl hydrogens has been replaced by a 1H-indol-3-yl group.


name: very long chain acyl-CoA dehydrogenase deficiency

description: An inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.


acetyl-L-carnitine

An O-acyl-L-carnitine where the acyl group specified is acetyl. It facilitates movement of acetyl-CoA into the matrices of mammalian mitochondria during the oxidation of fatty acids.


malonic aciduria

description: Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).


methylmalonic aciduria, cblA type

description: An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAA gene, encoding MMAA protein.


methylmalonic aciduria, cblB type

description: An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAB gene, encoding cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial.


transcobalamin II deficiency

description: Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia.


name: methylmalonic aciduria and homocystinuria type cblF

description: A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. The disorder is caused by mutations in the LMBRD1 gene (6q13) and is transmitted in an autosomal recessive manner.


name: combined malonic and methylmalonic acidemia

description: Combined malonic and methylmalonic acidemia is a rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline.


methylmalonic acid

A dicarboxylic acid that is malonic acid in which one of the methylene hydrogens is substituted by a methyl group.


PHENYLPYRUVATE

A 2-oxo monocarboxylic acid that is 3-phenylpropanoic acid substituted by an oxo group at position 2. It is an intermediate metabolite in the phenylalanine pathway.


An N(6)-acyl-L-lysine where the N(6)-acyl group is specified as acetyl.


isovaleric acidemia

description: Isovaleric acidemia (IVA) is an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis (brought on by prolonged fasting, an increased intake of protein-rich food or infections) and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients have also been reported.


FAS_HUMAN Fatty acid synthase (sprot)

A fatty acid synthase that is encoded in the genome of human.


name: BACH_HUMAN Cytosolic acyl coenzyme A thioester hydrolase (sprot)

description: A cytosolic acyl coenzyme A thioester hydrolase that is encoded in the genome of human.


name: ACOT2_HUMAN Acyl-coenzyme A thioesterase 2, mitochondrial (sprot)

description: An acyl-coenzyme A thioesterase 2, mitochondrial that is encoded in the genome of human.


name: ACOT4_HUMAN Peroxisomal succinyl-coenzyme A thioesterase (sprot)

description: A peroxisomal succinyl-coenzyme A thioesterase that is encoded in the genome of human.


name: ACOT8_HUMAN Acyl-coenzyme A thioesterase 8 (sprot)

description: An acyl-coenzyme A thioesterase 8 that is encoded in the genome of human.


name: MOGT2_HUMAN 2-acylglycerol O-acyltransferase 2 (sprot)

description: A 2-acylglycerol O-acyltransferase 2 that is encoded in the genome of human.


name: ACOT1_HUMAN Acyl-coenzyme A thioesterase 1 (sprot)

description: An acyl-coenzyme A thioesterase 1 that is encoded in the genome of human.


name: SAST_HUMAN S-acyl fatty acid synthase thioesterase, medium chain (sprot)

description: An S-acyl fatty acid synthase thioesterase, medium chain that is encoded in the genome of human.


oleic acid

An octadec-9-enoic acid in which the double bond at C-9 has Z (cis) stereochemistry.


hyperinsulinism-hyperammonemia syndrome

description: Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur.


name: SERA_HUMAN D-3-phosphoglycerate dehydrogenase (sprot)

description: A D-3-phosphoglycerate dehydrogenase that is encoded in the genome of human.


name: HIF1N_HUMAN Hypoxia-inducible factor 1-alpha inhibitor (sprot)

description: A hypoxia-inducible factor 1-alpha inhibitor that is encoded in the genome of human.


name: M2OM_HUMAN Mitochondrial 2-oxoglutarate/malate carrier protein (sprot)

description: A mitochondrial 2-oxoglutarate/malate carrier protein that is encoded in the genome of human.


name: D2HDH_HUMAN D-2-hydroxyglutarate dehydrogenase, mitochondrial (sprot)

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


name: L2HDH_HUMAN L-2-hydroxyglutarate dehydrogenase, mitochondrial (sprot)

description: An L-2-hydroxyglutarate dehydrogenase, mitochondrial that is encoded in the genome of human.


name: DHTK1_HUMAN 2-oxoadipate dehydrogenase complex component E1 (sprot)

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


name: ALKB1_HUMAN Nucleic acid dioxygenase ALKBH1 (sprot)

description: A nucleic acid dioxygenase ALKBH1 that is encoded in the genome of human.


name: KDM8_HUMAN Bifunctional peptidase and arginyl-hydroxylase JMJD5 (sprot)

description: A bifunctional peptidase and arginyl-hydroxylase JMJD5 that is encoded in the genome of human.


name: RIOX2_HUMAN Ribosomal oxygenase 2 (sprot)

description: A ribosomal oxygenase 2 that is encoded in the genome of human.


name: RIOX1_HUMAN Ribosomal oxygenase 1 (sprot)

description: A ribosomal oxygenase 1 that is encoded in the genome of human.


name: PHF8_HUMAN Histone lysine demethylase PHF8 (sprot)

description: A histone lysine demethylase PHF8 that is encoded in the genome of human.


name: TET1_HUMAN Methylcytosine dioxygenase TET1 (sprot)

description: A methylcytosine dioxygenase TET1 that is encoded in the genome of human.


name: TET2_HUMAN Methylcytosine dioxygenase TET2 (sprot)

description: A methylcytosine dioxygenase TET2 that is encoded in the genome of human.


name: TET3_HUMAN Methylcytosine dioxygenase TET3 (sprot)

description: A methylcytosine dioxygenase TET3 that is encoded in the genome of human.


α-ketoglutaric acid

An oxo dicarboxylic acid that consists of glutaric acid bearing an oxo substituent at position 2. It is an intermediate metabolite in Krebs cycle.


phenylacetic acid

A monocarboxylic acid that is toluene in which one of the hydrogens of the methyl group has been replaced by a carboxy group.


name: PANK4_HUMAN 4'-phosphopantetheine phosphatase (sprot)

description: A 4'-phosphopantetheine phosphatase that is encoded in the genome of human.


name: PANK2_HUMAN Pantothenate kinase 2, mitochondrial (sprot)

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


name: PANK1_HUMAN Pantothenate kinase 1 (sprot)

description: A pantothenate kinase 1 that is encoded in the genome of human.


name: PANK3_HUMAN Pantothenate kinase 3 (sprot)

description: A pantothenate kinase 3 that is encoded in the genome of human.


VNN1_HUMAN Pantetheinase (sprot)

A pantetheinase that is encoded in the genome of human.


name: VNN2_HUMAN Pantetheine hydrolase VNN2 (sprot)

description: A pantetheine hydrolase VNN2 that is encoded in the genome of human.


pantothenic acid

A pantothenic acid having R-configuration.


ribose-5-P isomerase deficiency

description: Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy.


name: IMPA1_HUMAN Inositol monophosphatase 1 (sprot)

description: An inositol monophosphatase 1 that is encoded in the genome of human.


name: IMPA2_HUMAN Inositol monophosphatase 2 (sprot)

description: An inositol monophosphatase 2 that is encoded in the genome of human.


myo-inositol

An inositol having myo- configuration.


name: B3GL1_HUMAN UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 (sprot)

description: A UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 that is encoded in the genome of human.


name: S35D1_HUMAN Nucleotide sugar transporter SLC35D1 (sprot)

description: A nucleotide sugar transporter SLC35D1 that is encoded in the genome of human.


name: B3GN7_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 (sprot)

description: A UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 that is encoded in the genome of human.


name: C1GLT_HUMAN Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 (sprot)

description: A glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 that is encoded in the genome of human.


name: B4GN3_HUMAN Beta-1,4-N-acetylgalactosaminyltransferase 3 (sprot)

description: A beta-1,4-N-acetylgalactosaminyltransferase 3 that is encoded in the genome of human.


name: B4GN4_HUMAN N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 1 (sprot)

description: An N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 1 that is encoded in the genome of human.


name: B4GN2_HUMAN Beta-1,4 N-acetylgalactosaminyltransferase 2 (sprot)

description: A beta-1,4 N-acetylgalactosaminyltransferase 2 that is encoded in the genome of human.


HYAL1_HUMAN Hyaluronidase-1 (sprot)

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


HYALP_HUMAN Hyaluronidase PH-20 (sprot)

A hyaluronidase PH-20 that is encoded in the genome of human.


HYAL2_HUMAN Hyaluronidase-2 (sprot)

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


N-acetyl-alpha-D-galactosamine

An N-acetyl-D-galactosamine having alpha-configuration at the anomeric centre.


name: INP4B_HUMAN Inositol polyphosphate 4-phosphatase type II (sprot)

description: An inositol polyphosphate 4-phosphatase type II that is encoded in the genome of human.


name: INP4A_HUMAN Inositol polyphosphate-4-phosphatase type I A (sprot)

description: An inositol polyphosphate-4-phosphatase type I A that is encoded in the genome of human.


inositol 1-phosphate

An inositol having myo- configuration substituted at position 1 by a phosphate group.


name: Spermidine and Spermine Biosynthesis,Metabolic


description: Ornithine transcarbamylase deficiency (OTCD) is a disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe, neonatal-onset disease found almost exclusively in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological complications.


ornithine aminotransferase deficiency

description: A very rare inherited retinal dystrophy characterized by progressive chorioretinal atrophy, myopia and early cataract.


ARGI1_HUMAN Arginase-1 (sprot)

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


name: OTC_HUMAN Ornithine transcarbamylase, mitochondrial (sprot)

description: An ornithine transcarbamylase, mitochondrial that is encoded in the genome of human.


name: ARGI2_HUMAN Arginase-2, mitochondrial (sprot)

description: An arginase-2, mitochondrial that is encoded in the genome of human.


name: CTR4_HUMAN Cationic amino acid transporter 4 (sprot)

description: A cationic amino acid transporter 4 that is encoded in the genome of human.


name: ORNT1_HUMAN Mitochondrial ornithine transporter 1 (sprot)

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


name: ORNT2_HUMAN Mitochondrial ornithine transporter 2 (sprot)

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


name: CTR3_HUMAN Cationic amino acid transporter 3 (sprot)

description: A cationic amino acid transporter 3 that is encoded in the genome of human.


name: CTR1_HUMAN High affinity cationic amino acid transporter 1 (sprot)

description: A high affinity cationic amino acid transporter 1 that is encoded in the genome of human.


name: CTR2_HUMAN Cationic amino acid transporter 2 (sprot)

description: A cationic amino acid transporter 2 that is encoded in the genome of human.


name: YLAT2_HUMAN Y+L amino acid transporter 2 (sprot)

description: A Y+L amino acid transporter 2 that is encoded in the genome of human.


name: OAZ1_HUMAN Ornithine decarboxylase antizyme 1 (sprot)

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


name: OAZ2_HUMAN Ornithine decarboxylase antizyme 2 (sprot)

description: An ornithine decarboxylase antizyme 2 that is encoded in the genome of human.


name: OAZ3_HUMAN Ornithine decarboxylase antizyme 3 (sprot)

description: An ornithine decarboxylase antizyme 3 that is encoded in the genome of human.


name: AZIN1_HUMAN Antizyme inhibitor 1 (sprot)

description: An antizyme inhibitor 1 that is encoded in the genome of human.


L-ornithine

An optically active form of ornithine having L-configuration.


name: RENBP_HUMAN N-acylglucosamine 2-epimerase (sprot)

description: An N-acylglucosamine 2-epimerase that is encoded in the genome of human.


name: HEXB_HUMAN Beta-hexosaminidase subunit beta (sprot)

description: A beta-hexosaminidase subunit beta that is encoded in the genome of human.


name: HEXA_HUMAN Beta-hexosaminidase subunit alpha (sprot)

description: A beta-hexosaminidase subunit alpha that is encoded in the genome of human.


name: NAGK_HUMAN N-acetyl-D-glucosamine kinase (sprot)

description: An N-acetyl-D-glucosamine kinase that is encoded in the genome of human.


name: CHIA_HUMAN Acidic mammalian chitinase (sprot)

description: An acidic mammalian chitinase that is encoded in the genome of human.


name: NAGPA_HUMAN N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase (sprot)

description: An N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase that is encoded in the genome of human.


CHIT1_HUMAN Chitotriosidase-1 (sprot)

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


name: B4GT3_HUMAN Beta-1,4-galactosyltransferase 3 (sprot)

description: A beta-1,4-galactosyltransferase 3 that is encoded in the genome of human.


name: B4GT4_HUMAN Beta-1,4-galactosyltransferase 4 (sprot)

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


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


name: PMGT1_HUMAN Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 (sprot)

description: A protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 that is encoded in the genome of human.


name: LYZL1_HUMAN Lysozyme-like protein 1 (sprot)

description: A lysozyme-like protein 1 that is encoded in the genome of human.


name: LYZL2_HUMAN Lysozyme-like protein 2 (sprot)

description: A lysozyme-like protein 2 that is encoded in the genome of human.


name: LYZL5_HUMAN Sperm acrosome-associated protein 5 (sprot)

description: A sperm acrosome-associated protein 5 that is encoded in the genome of human.


name: LYZL6_HUMAN Lysozyme-like protein 6 (sprot)

description: A lysozyme-like protein 6 that is encoded in the genome of human.


name: CH3L1_HUMAN Chitinase-3-like protein 1 (sprot)

description: A chitinase-3-like protein 1 that is encoded in the genome of human.


name: CH3L2_HUMAN Chitinase-3-like protein 2 (sprot)

description: A chitinase-3-like protein 2 that is encoded in the genome of human.


HEXD_HUMAN Hexosaminidase D (sprot)

A hexosaminidase D that is encoded in the genome of human.


OGA_HUMAN Protein O-GlcNAcase (sprot)

A protein O-GlcNAcase that is encoded in the genome of human.


N-acetyl-D-glucosamine

The D isomer of N-acetylglucosamine.


name: SC6A2_HUMAN Sodium-dependent noradrenaline transporter (sprot)

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


name: ADA1B_HUMAN Alpha-1B adrenergic receptor (sprot)

description: An alpha-1B adrenergic receptor that is encoded in the genome of human.


name: ADA1D_HUMAN Alpha-1D adrenergic receptor (sprot)

description: An alpha-1D adrenergic receptor that is encoded in the genome of human.


SYT5_HUMAN Synaptotagmin-5 (sprot)

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


name: ADRB3_HUMAN Beta-3 adrenergic receptor (sprot)

description: A beta-3 adrenergic receptor that is encoded in the genome of human.


name: Q9Y6W9_HUMAN Norepinephrine transporter isoform 2 (Fragment) (trembl)


name: ADA2C_HUMAN Alpha-2C adrenergic receptor (sprot)

description: An alpha-2C adrenergic receptor that is encoded in the genome of human.


name: Q9UQ04_HUMAN Norepinephrine transporter isoform 1 (Fragment) (trembl)


name: Q71UR5_HUMAN Norepinephrine transporter (Fragment) (trembl)


(-)-noradrenaline

The R-enantiomer of noradrenaline.


name: Carbamazepine Metabolism Pathway,Drug Metabolism


name: Celecoxib Metabolism Pathway,Drug Metabolism


name: Clomipramine Metabolism Pathway,Drug Metabolism


name: Desipramine Metabolism Pathway,Drug Metabolism


name: Doxepin Metabolism Pathway,Drug Metabolism


name: Fatty Acid Elongation in Mitochondria,Metabolic


name: Felbamate Metabolism Pathway,Drug Metabolism


name: Ibuprofen Metabolism Pathway,Drug Metabolism


name: Ifosfamide Metabolism Pathway,Drug Metabolism


name: Imipramine Metabolism Pathway,Drug Metabolism


name: Lidocaine (Antiarrhythmic) Action Pathway,Drug Action


name: Lidocaine (Local Anaesthetic) Metabolism Pathway,Drug Metabolism


name: Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD),Disease


name: Nevirapine Metabolism Pathway,Drug Metabolism


name: Nicotine Metabolism Pathway,Drug Metabolism


name: Phenytoin (Antiarrhythmic) Action Pathway,Drug Action


name: Rosiglitazone Metabolism Pathway,Drug Metabolism


name: MMSA_HUMAN Methylmalonate-semialdehyde/malonate-semialdehyde dehydrogenase [acylating], mitochondrial (sprot)

description: A methylmalonate-semialdehyde/malonate-semialdehyde dehydrogenase [acylating], mitochondrial that is encoded in the genome of human.


name: CBR1_HUMAN Carbonyl reductase [NADPH] 1 (sprot)

description: A carbonyl reductase [NADPH] 1 that is encoded in the genome of human.


name: DHRS4_HUMAN Dehydrogenase/reductase SDR family member 4 (sprot)

description: A dehydrogenase/reductase SDR family member 4 that is encoded in the genome of human.


name: CBR3_HUMAN Carbonyl reductase [NADPH] 3 (sprot)

description: A carbonyl reductase [NADPH] 3 that is encoded in the genome of human.


name: TRXR1_HUMAN Thioredoxin reductase 1, cytoplasmic (sprot)

description: A thioredoxin reductase 1, cytoplasmic that is encoded in the genome of human.


name: FMO5_HUMAN Flavin-containing monooxygenase 5 (sprot)

description: A flavin-containing monooxygenase 5 that is encoded in the genome of human.


name: ERG1_HUMAN Squalene monooxygenase (sprot)

description: A squalene monooxygenase that is encoded in the genome of human.


name: FMO2_HUMAN Flavin-containing monooxygenase 2 (sprot)

description: A flavin-containing monooxygenase 2 that is encoded in the genome of human.


name: TRXR2_HUMAN Thioredoxin reductase 2, mitochondrial (sprot)

description: A thioredoxin reductase 2, mitochondrial that is encoded in the genome of human.


name: FMO4_HUMAN Dimethylaniline monooxygenase [N-oxide-forming] 4 (sprot)

description: A dimethylaniline monooxygenase [N-oxide-forming] 4 that is encoded in the genome of human.


name: FMO3_HUMAN Flavin-containing monooxygenase 3 (sprot)

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


name: NCPR_HUMAN NADPH--cytochrome P450 reductase (sprot)

description: An NADPH--cytochrome P450 reductase that is encoded in the genome of human.


name: FMO1_HUMAN Flavin-containing monooxygenase 1 (sprot)

description: A flavin-containing monooxygenase 1 that is encoded in the genome of human.


name: ADRO_HUMAN NADPH:adrenodoxin oxidoreductase, mitochondrial (sprot)

description: An NADPH:adrenodoxin oxidoreductase, mitochondrial that is encoded in the genome of human.


FDFT_HUMAN Squalene synthase (sprot)

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


name: ERG24_HUMAN Delta(14)-sterol reductase TM7SF2 (sprot)

description: A Delta(14)-sterol reductase TM7SF2 that is encoded in the genome of human.


name: MSMO1_HUMAN Methylsterol monooxygenase 1 (sprot)

description: A methylsterol monooxygenase 1 that is encoded in the genome of human.


name: NSDHL_HUMAN Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating (sprot)

description: A sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating that is encoded in the genome of human.


DCXR_HUMAN L-xylulose reductase (sprot)

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


name: GMDS_HUMAN GDP-mannose 4,6 dehydratase (sprot)

description: A GDP-mannose 4,6 dehydratase that is encoded in the genome of human.


name: MTRR_HUMAN Methionine synthase reductase (sprot)

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


name: RDH5_HUMAN Retinol dehydrogenase 5 (sprot)

description: A retinol dehydrogenase 5 that is encoded in the genome of human.


name: G3PT_HUMAN Glyceraldehyde-3-phosphate dehydrogenase, testis-specific (sprot)

description: A glyceraldehyde-3-phosphate dehydrogenase, testis-specific that is encoded in the genome of human.


name: G3P_HUMAN Glyceraldehyde-3-phosphate dehydrogenase (sprot)

description: A glyceraldehyde-3-phosphate dehydrogenase that is encoded in the genome of human.


name: SIR6_HUMAN NAD-dependent protein deacylase sirtuin-6 (sprot)

description: An NAD-dependent protein deacylase sirtuin-6 that is encoded in the genome of human.


name: NAR3_HUMAN Ecto-ADP-ribosyltransferase 3 (sprot)

description: An ecto-ADP-ribosyltransferase 3 that is encoded in the genome of human.


name: NAR5_HUMAN Ecto-ADP-ribosyltransferase 5 (sprot)

description: An ecto-ADP-ribosyltransferase 5 that is encoded in the genome of human.


name: NAR1_HUMAN GPI-linked NAD(P)(+)--arginine ADP-ribosyltransferase 1 (sprot)

description: A GPI-linked NAD(P)(+)--arginine ADP-ribosyltransferase 1 that is encoded in the genome of human.


name: HMDH_HUMAN 3-hydroxy-3-methylglutaryl-coenzyme A reductase (sprot)

description: A 3-hydroxy-3-methylglutaryl-coenzyme A reductase that is encoded in the genome of human.


name: NNTM_HUMAN NAD(P) transhydrogenase, mitochondrial (sprot)

description: An NAD(P) transhydrogenase, mitochondrial that is encoded in the genome of human.


name: BST1_HUMAN ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 (sprot)

description: An ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 that is encoded in the genome of human.


NADK_HUMAN NAD kinase (sprot)

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


name: CD38_HUMAN ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 (sprot)

description: An ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 that is encoded in the genome of human.


name: NAR4_HUMAN Ecto-ADP-ribosyltransferase 4 (sprot)

description: An ecto-ADP-ribosyltransferase 4 that is encoded in the genome of human.


name: MTDC_HUMAN Bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial (sprot)

description: A bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial that is encoded in the genome of human.


FCL_HUMAN GDP-L-fucose synthase (sprot)

A GDP-L-fucose synthetase that is encoded in the genome of human.


name: AL1L1_HUMAN Cytosolic 10-formyltetrahydrofolate dehydrogenase (sprot)

description: A 10-formyltetrahydrofolate dehydrogenase that is encoded in the genome of human.


name: MECR_HUMAN Enoyl-[acyl-carrier-protein] reductase, mitochondrial (sprot)

description: An enoyl-[acyl-carrier-protein] reductase, mitochondrial that is encoded in the genome of human.


CP4F2_HUMAN Cytochrome P450 4F2 (sprot)

A cytochrome P450 4F2 that is encoded in the genome of human.


CP4F3_HUMAN Cytochrome P450 4F3 (sprot)

A cytochrome P450 4F3 that is encoded in the genome of human.


name: 6PGD_HUMAN 6-phosphogluconate dehydrogenase, decarboxylating (sprot)

description: A 6-phosphogluconate dehydrogenase, decarboxylating that is encoded in the genome of human.


name: DECR_HUMAN 2,4-dienoyl-CoA reductase [(3E)-enoyl-CoA-producing], mitochondrial (sprot)

description: A 2,4-dienoyl-CoA reductase [(3E)-enoyl-CoA-producing], mitochondrial that is encoded in the genome of human.


name: QOR_HUMAN Quinone oxidoreductase (sprot)

description: A quinone oxidoreductase that is encoded in the genome of human.


name: CP27B_HUMAN 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial (sprot)

description: A 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial that is encoded in the genome of human.


name: DECR2_HUMAN Peroxisomal 2,4-dienoyl-CoA reductase [(3E)-enoyl-CoA-producing] (sprot)

description: A peroxisomal 2,4-dienoyl-CoA reductase [(3E)-enoyl-CoA-producing] that is encoded in the genome of human.


name: CP4FB_HUMAN Cytochrome P450 4F11 (sprot)

description: A cytochrome P450 4F11 that is encoded in the genome of human.


CP4F8_HUMAN Cytochrome P450 4F8 (sprot)

A cytochrome P450 4F8 that is encoded in the genome of human.


CATA_HUMAN Catalase (sprot)

A catalase that is encoded in the genome of human.


name: PTGR1_HUMAN Prostaglandin reductase 1 (sprot)

description: A prostaglandin reductase 1 that is encoded in the genome of human.


CP7B1_HUMAN Cytochrome P450 7B1 (sprot)

A cytochrome P450 7B1 that is encoded in the genome of human.


name: NQO1_HUMAN NAD(P)H dehydrogenase [quinone] 1 (sprot)

description: An NAD(P)H dehydrogenase [quinone] 1 that is encoded in the genome of human.


name: COQ7_HUMAN 5-demethoxyubiquinone hydroxylase, mitochondrial (sprot)

description: A ubiquinone biosynthesis protein COQ7 that is encoded in the genome of human.


name: CP24A_HUMAN 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial (sprot)

description: A 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial that is encoded in the genome of human.


name: FMO6_HUMAN Putative dimethylaniline monooxygenase [N-oxide-forming] 6 (sprot)


name: KMO_HUMAN Kynurenine 3-monooxygenase (sprot)

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


name: CP2R1_HUMAN Vitamin D 25-hydroxylase (sprot)

description: A vitamin D 25-hydroxylase that is encoded in the genome of human.


name: KDSR_HUMAN 3-ketodihydrosphingosine reductase (sprot)

description: A 3-ketodihydrosphingosine reductase that is encoded in the genome of human.


name: ARK72_HUMAN Aflatoxin B1 aldehyde reductase member 2 (sprot)

description: An aflatoxin B1 aldehyde reductase member 2 that is encoded in the genome of human.


name: RDH8_HUMAN Retinol dehydrogenase 8 (sprot)

description: A retinol dehydrogenase 8 that is encoded in the genome of human.


name: RDH11_HUMAN Retinol dehydrogenase 11 (sprot)

description: A retinol dehydrogenase 11 that is encoded in the genome of human.


name: CP39A_HUMAN 24-hydroxycholesterol 7-alpha-hydroxylase (sprot)

description: A cytochrome P450 39A1 that is encoded in the genome of human.


name: CP8B1_HUMAN 7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase (sprot)

description: A cytochrome P450 8B1 that is encoded in the genome of human.


name: RDH10_HUMAN Retinol dehydrogenase 10 (sprot)

description: A retinol dehydrogenase 10 that is encoded in the genome of human.


name: TRXR3_HUMAN Thioredoxin reductase 3 (sprot)

description: A thioredoxin reductase 3 that is encoded in the genome of human.


name: AL1L2_HUMAN Mitochondrial 10-formyltetrahydrofolate dehydrogenase (sprot)

description: A mitochondrial 10-formyltetrahydrofolate dehydrogenase that is encoded in the genome of human.


name: FACR1_HUMAN Fatty acyl-CoA reductase 1 (sprot)

description: A fatty acyl-CoA reductase 1 that is encoded in the genome of human.


name: FACR2_HUMAN Fatty acyl-CoA reductase 2 (sprot)

description: A fatty acyl-CoA reductase 2 that is encoded in the genome of human.


name: Q5HYI4_HUMAN Squalene monooxygenase (trembl)


name: A9Z1X1_HUMAN phosphogluconate dehydrogenase (NADP(+)-dependent, decarboxylating) (trembl)


name: MICA1_HUMAN [F-actin]-monooxygenase MICAL1 (sprot)

description: An [F-actin]-monooxygenase MICAL1 that is encoded in the genome of human.


name: MICA2_HUMAN [F-actin]-monooxygenase MICAL2 (sprot)

description: An [F-actin]-monooxygenase MICAL2 that is encoded in the genome of human.


name: MICA3_HUMAN [F-actin]-monooxygenase MICAL3 (sprot)

description: An [F-actin]-monooxygenase MICAL3 that is encoded in the genome of human.


name: NDOR1_HUMAN NADPH-dependent diflavin oxidoreductase 1 (sprot)

description: An NADPH-dependent diflavin oxidoreductase 1 that is encoded in the genome of human.


NOX1_HUMAN NADPH oxidase 1 (sprot)

An NADPH oxidase 1 that is encoded in the genome of human.


name: RETST_HUMAN All-trans-retinol 13,14-reductase (sprot)

description: An all-trans-retinol 13,14-reductase that is encoded in the genome of human.


name: CP4FN_HUMAN Ultra-long-chain fatty acid omega-hydroxylase (sprot)

description: An ultra-long-chain fatty acid omega-hydroxylase that is encoded in the genome of human.


name: NUDT7_HUMAN Peroxisomal coenzyme A diphosphatase NUDT7 (sprot)

description: A peroxisomal coenzyme A diphosphatase NUDT7 that is encoded in the genome of human.


name: AL8A1_HUMAN 2-aminomuconic semialdehyde dehydrogenase (sprot)

description: A 2-aminomuconic semialdehyde dehydrogenase that is encoded in the genome of human.


name: PTGR2_HUMAN Prostaglandin reductase 2 (sprot)

description: A prostaglandin reductase 2 that is encoded in the genome of human.


name: TXND2_HUMAN Thioredoxin domain-containing protein 2 (sprot)

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


name: DHRS3_HUMAN Short-chain dehydrogenase/reductase 3 (sprot)

description: A short-chain dehydrogenase/reductase 3 that is encoded in the genome of human.


name: TECR_HUMAN Very-long-chain enoyl-CoA reductase (sprot)

description: A very-long-chain enoyl-CoA reductase that is encoded in the genome of human.


name: B3VK56_HUMAN Nitric oxide synthase (trembl)


name: KCAB2_HUMAN Voltage-gated potassium channel subunit beta-2 (sprot)

description: A voltage-gated potassium channel subunit beta-2 that is encoded in the genome of human.


name: PHP14_HUMAN 14 kDa phosphohistidine phosphatase (sprot)

description: A 14 kDa phosphohistidine phosphatase that is encoded in the genome of human.


name: AKCL2_HUMAN 1,5-anhydro-D-fructose reductase (sprot)

description: A 1,5-anhydro-D-fructose reductase that is encoded in the genome of human.


name: FXDC2_HUMAN Fatty acid hydroxylase domain-containing protein 2 (sprot)

description: A fatty acid hydroxylase domain-containing protein 2 that is encoded in the genome of human.


name: MTMR1_HUMAN Myotubularin-related protein 1 (sprot)

description: A myotubularin-related protein 1 that is encoded in the genome of human.


name: MTMR2_HUMAN Myotubularin-related protein 2 (sprot)

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


name: MTMR6_HUMAN Myotubularin-related protein 6 (sprot)

description: A myotubularin-related protein 6 that is encoded in the genome of human.


name: MTMR7_HUMAN Myotubularin-related protein 7 (sprot)

description: A myotubularin-related protein 7 that is encoded in the genome of human.


name: NAKD2_HUMAN NAD kinase 2, mitochondrial (sprot)

description: An NAD kinase 2, mitochondrial that is encoded in the genome of human.


name: SODIUM beta-NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE


name: UMPS_HUMAN Uridine 5'-monophosphate synthase (sprot)

description: A uridine 5'-monophosphate synthase that is encoded in the genome of human.


OROTIDINE MONOPHOSPHATE

A pyrimidine ribonucleoside 5'-monophosphate having 6-carboxyuracil as the nucleobase.


name: PA2G5_HUMAN Phospholipase A2 group V (sprot)

description: A phospholipase A2 group V that is encoded in the genome of human.


name: PA2GF_HUMAN Group IIF secretory phospholipase A2 (sprot)

description: A group IIF secretory phospholipase A2 that is encoded in the genome of human.


name: PA2GX_HUMAN Group 10 secretory phospholipase A2 (sprot)

description: A group 10 secretory phospholipase A2 that is encoded in the genome of human.


name: PG12A_HUMAN Group XIIA secretory phospholipase A2 (sprot)

description: A group XIIA secretory phospholipase A2 that is encoded in the genome of human.


name: PLPL9_HUMAN 85/88 kDa calcium-independent phospholipase A2 (sprot)

description: An 85/88 kDa calcium-independent phospholipase A2 that is encoded in the genome of human.


name: PA2GA_HUMAN Phospholipase A2, membrane associated (sprot)

description: A phospholipase A2, membrane associated that is encoded in the genome of human.


name: PA2GD_HUMAN Group IID secretory phospholipase A2 (sprot)

description: A group IID secretory phospholipase A2 that is encoded in the genome of human.


name: LIPP_HUMAN Pancreatic triacylglycerol lipase (sprot)

description: A pancreatic triacylglycerol lipase that is encoded in the genome of human.


name: LIPC_HUMAN Hepatic triacylglycerol lipase (sprot)

description: A hepatic triacylglycerol lipase that is encoded in the genome of human.


name: LIPR1_HUMAN Inactive pancreatic lipase-related protein 1 (sprot)

description: A pancreatic lipase-related protein 1 that is encoded in the genome of human.


name: PLPL3_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase PNPLA3 (sprot)

description: A 1-acylglycerol-3-phosphate O-acyltransferase PNPLA3 that is encoded in the genome of human.


name: LIPF_HUMAN Gastric triacylglycerol lipase (sprot)

description: A gastric triacylglycerol lipase that is encoded in the genome of human.


LIPG_HUMAN Endothelial lipase (sprot)

An endothelial lipase that is encoded in the genome of human.


name: LIPR2_HUMAN Pancreatic lipase-related protein 2 (sprot)

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


name: PA24C_HUMAN Cytosolic phospholipase A2 gamma (sprot)

description: A cytosolic phospholipase A2 gamma that is encoded in the genome of human.


name: PA2G3_HUMAN Group 3 secretory phospholipase A2 (sprot)

description: A group 3 secretory phospholipase A2 that is encoded in the genome of human.


name: PPT1_HUMAN Palmitoyl-protein thioesterase 1 (sprot)

description: A palmitoyl-protein thioesterase 1 that is encoded in the genome of human.


name: PPT2_HUMAN Lysosomal thioesterase PPT2 (sprot)

description: A lysosomal thioesterase PPT2 that is encoded in the genome of human.


name: HIPK1_HUMAN Homeodomain-interacting protein kinase 1 (sprot)

description: A homeodomain-interacting protein kinase 1 that is encoded in the genome of human.


name: S27A6_HUMAN Long-chain fatty acid transport protein 6 (sprot)

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


name: S27A3_HUMAN Long-chain fatty acid transport protein 3 (sprot)

description: A long-chain fatty acid transport protein 3 that is encoded in the genome of human.


name: PLPL4_HUMAN Patatin-like phospholipase domain-containing protein 4 (sprot)

description: A patatin-like phospholipase domain-containing protein 4 that is encoded in the genome of human.


name: S27A1_HUMAN Long-chain fatty acid transport protein 1 (sprot)

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


name: S27A4_HUMAN Long-chain fatty acid transport protein 4 (sprot)

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


name: PLPL2_HUMAN Patatin-like phospholipase domain-containing protein 2 (sprot)

description: A patatin-like phospholipase domain-containing protein 2 that is encoded in the genome of human.


name: PA24D_HUMAN Cytosolic phospholipase A2 delta (sprot)

description: A cytosolic phospholipase A2 delta that is encoded in the genome of human.


name: PA24E_HUMAN Cytosolic phospholipase A2 epsilon (sprot)

description: A cytosolic phospholipase A2 epsilon that is encoded in the genome of human.


name: PA24F_HUMAN Cytosolic phospholipase A2 zeta (sprot)

description: A cytosolic phospholipase A2 zeta that is encoded in the genome of human.


name: PA24B_HUMAN Cytosolic phospholipase A2 beta (sprot)

description: A cytosolic phospholipase A2 beta that is encoded in the genome of human.


EST5A_HUMAN Carboxylesterase 5A (sprot)

A carboxylesterase 5A that is encoded in the genome of human.


name: LIPR3_HUMAN Pancreatic lipase-related protein 3 (sprot)

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


name: BACHL_HUMAN Putative cytosolic acyl coenzyme A thioester hydrolase-like (sprot)

description: A putative cytosolic acyl coenzyme A thioester hydrolase-like that is encoded in the genome of human.


name: Q53FV7_HUMAN Carnitine O-palmitoyltransferase 1, muscle isoform (Fragment) (trembl)


EST3_HUMAN Carboxylesterase 3 (sprot)

A carboxylesterase 3 that is encoded in the genome of human.


name: Q86WD1_HUMAN Peroxisome proliferator-activated receptor gamma (trembl)


name: Q9UEF6_HUMAN Peroxisome proliferator activated-receptor gamma (Fragment) (trembl)


name: Q53EW1_HUMAN Peroxisome proliferator-activated receptor gamma (Fragment) (trembl)


name: A2RRE8_HUMAN Carnitine O-palmitoyltransferase 1, muscle isoform (trembl)


name: Q6L9M1_HUMAN Peroxisome proliferator-activated receptor gamma (Fragment) (trembl)


name: A5PLL0_HUMAN Carnitine O-palmitoyltransferase 1, muscle isoform (trembl)


name: THEM5_HUMAN Acyl-coenzyme A thioesterase THEM5 (sprot)

description: An acyl-coenzyme A thioesterase THEM5 that is encoded in the genome of human.


name: THEM4_HUMAN Acyl-coenzyme A thioesterase THEM4 (sprot)

description: An acyl-coenzyme A thioesterase THEM4 that is encoded in the genome of human.


palmitic acid

A straight-chain, sixteen-carbon, saturated long-chain fatty acid.


HMOX2_HUMAN Heme oxygenase 2 (sprot)

A heme oxygenase 2 that is encoded in the genome of human.


name: CDO1_HUMAN Cysteine dioxygenase type 1 (sprot)

description: A cysteine dioxygenase type 1 that is encoded in the genome of human.


name: NCF2_HUMAN Neutrophil cytosol factor 2 (sprot)

description: A neutrophil cytosol factor 2 that is encoded in the genome of human.


name: NCF4_HUMAN Neutrophil cytosol factor 4 (sprot)

description: A neutrophil cytosol factor 4 that is encoded in the genome of human.


name: CY24B_HUMAN Cytochrome b-245 heavy chain (sprot)

description: A cytochrome b-245 heavy chain that is encoded in the genome of human.


name: RAC2_HUMAN Ras-related C3 botulinum toxin substrate 2 (sprot)

description: A Ras-related C3 botulinum toxin substrate 2 that is encoded in the genome of human.


name: NCF1_HUMAN Neutrophil cytosol factor 1 (sprot)

description: A neutrophil cytosol factor 1 that is encoded in the genome of human.


name: CY24A_HUMAN Cytochrome b-245 light chain (sprot)

description: A cytochrome b-245 light chain that is encoded in the genome of human.


name: RDH12_HUMAN Retinol dehydrogenase 12 (sprot)

description: A retinol dehydrogenase 12 that is encoded in the genome of human.


DUOX2_HUMAN Dual oxidase 2 (sprot)

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


name: RDH14_HUMAN Retinol dehydrogenase 14 (sprot)

description: A retinol dehydrogenase 14 that is encoded in the genome of human.


DUOX1_HUMAN Dual oxidase 1 (sprot)

A dual oxidase 1 that is encoded in the genome of human.


NOX5_HUMAN NADPH oxidase 5 (sprot)

An NADPH oxidase 5 that is encoded in the genome of human.


NOX3_HUMAN NADPH oxidase 3 (sprot)

An NADPH oxidase 3 that is encoded in the genome of human.


NOX4_HUMAN NADPH oxidase 4 (sprot)

An NADPH oxidase 4 that is encoded in the genome of human.


name: HTAI2_HUMAN Oxidoreductase HTATIP2 (sprot)

description: An oxidoreductase HTATIP2 that is encoded in the genome of human.


name: NCF1B_HUMAN Putative neutrophil cytosol factor 1B (sprot)


name: NCF1C_HUMAN Putative neutrophil cytosol factor 1C (sprot)


name: NOXA1_HUMAN NADPH oxidase activator 1 (sprot)

description: An NADPH oxidase activator 1 that is encoded in the genome of human.


name: NNRD_HUMAN ATP-dependent (S)-NAD(P)H-hydrate dehydratase (sprot)

description: An ATP-dependent (S)-NAD(P)H-hydrate dehydratase that is encoded in the genome of human.


NADPH

The reduced form of NADP+; used in anabolic reactions, such as lipid and nucleic acid synthesis, which require NADPH as a reducing agent.


O-palmitoyl-L-carnitine

An O-acyl-L-carnitine in which the acyl group is specified as palmitoyl (hexadecanoyl).


oxalacetic acid

An oxodicarboxylic acid that is succinic acid bearing a single oxo group.


name: Lamivudine Metabolism Pathway,Drug Metabolism


odontohypophosphatasia

description: Odontohypophosphatasia (odonto-HPP) is the least severe form of hypophosphatasia characterized by premature exfoliation of primary and/or permanent teeth and/or severe dental caries, in the absence of skeletal system abnormalities.


name: SGPL1_HUMAN Sphingosine-1-phosphate lyase 1 (sprot)

description: A sphingosine-1-phosphate lyase 1 that is encoded in the genome of human.


name: PLAT2_HUMAN Phospholipase A and acyltransferase 2 (sprot)

description: A phospholipase A and acyltransferase 2 that is encoded in the genome of human.


PHOSPHORYLETHANOLAMINE

The ethanolamine mono-ester of phosphoric acid, and a metabolite of phospholipid metabolism. This phosphomonoester shows strong structural similarity to the inhibitory neurotransmitter GABA, and is decreased in post-mortem Alzheimer's disease brain.


α-oxoadipic acid

An oxo dicarboxylic acid that is adipic acid substituted by an oxo group at position 2.


orotic aciduria

description: An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine.


ornithine translocase deficiency

description: A rare, genetic disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or coagulation defects or other chronic liver dysfunction.


name: PYRD_HUMAN Dihydroorotate dehydrogenase (quinone), mitochondrial (sprot)

description: A dihydroorotate dehydrogenase (quinone), mitochondrial that is encoded in the genome of human.


orotic acid

A pyrimidinemonocarboxylic acid that is uracil bearing a carboxy substituent at position C-6.


mevalonic aciduria

description: Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.


KIME_HUMAN Mevalonate kinase (sprot)

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


MEVALONIC ACID

The (R)-enantiomer of mevalonic acid.


name: S13A4_HUMAN Solute carrier family 13 member 4 (sprot)

description: A solute carrier family 13 member 4 that is encoded in the genome of human.


phenol

An organic hydroxy compound that consists of benzene bearing a single hydroxy substituent. The parent of the class of phenols.


name: NMNA1_HUMAN Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 (sprot)

description: A nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 that is encoded in the genome of human.


name: NMNA3_HUMAN Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 (sprot)

description: A nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 that is encoded in the genome of human.


name: NMNA2_HUMAN Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2 (sprot)

description: A nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2 that is encoded in the genome of human.


name: NRK1_HUMAN Nicotinamide riboside kinase 1 (sprot)

description: A nicotinamide riboside kinase 1 that is encoded in the genome of human.


name: NAMPT_HUMAN Nicotinamide phosphoribosyltransferase (sprot)

description: A nicotinamide phosphoribosyltransferase that is encoded in the genome of human.


name: NRK2_HUMAN Nicotinamide riboside kinase 2 (sprot)

description: A nicotinamide riboside kinase 2 that is encoded in the genome of human.


Salla disease

description: Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life,followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures ; ataxia ; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive.


NEUR2_HUMAN Sialidase-2 (sprot)

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


NEUR4_HUMAN Sialidase-4 (sprot)

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


NEUR1_HUMAN Sialidase-1 (sprot)

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


SIAS_HUMAN Sialic acid synthase (sprot)

A sialic acid synthase that is encoded in the genome of human.


An N-acylneuraminate-9-phosphatase that is encoded in the genome of human.


name: NPL_HUMAN N-acetylneuraminate lyase (sprot)

description: An N-acetylneuraminate lyase that is encoded in the genome of human.


N-acetyl-beta-neuraminic acid

N-Acetylneuraminic acid with beta configuration at the anomeric centre.


amyotrophic lateral sclerosis type 1

description: An inherited form of amyotrophic lateral sclerosis, usually inherited in an autosomal dominant pattern, caused by mutation(s) in the SOD1 gene, encoding superoxide dismutase.


name: NADC_HUMAN Nicotinate-nucleotide pyrophosphorylase [carboxylating] (sprot)

description: A nicotinate-nucleotide pyrophosphorylase [carboxylating] that is encoded in the genome of human.


QUINOLINIC ACID

A pyridinedicarboxylic acid that is pyridine substituted by carboxy groups at positions 2 and 3. It is a metabolite of tryptophan.


name: hypogonadotropic hypogonadism 7 with or without anosmia

description: A hypogonadotropic hypogonadism that has material basis in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported.


Woodhouse-Sakati syndrome

description: Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.


testosterone

An androstanoid having 17beta-hydroxy and 3-oxo groups, together with unsaturation at C-4-C-5..


A thiamine-triphosphatase that is encoded in the genome of human.


name: Q7Z7J1_HUMAN Thiamine transporter THTR-1 (Fragment) (trembl)


name: B0FBR7_HUMAN Solute carrier family 19 thiamine transporter member 2 (Fragment) (trembl)


thiamine

A primary alcohol that is 1,3-thiazol-3-ium substituted by (4-amino-2-methylpyrimidin-5-yl)methyl, methyl and 2-hydroxyethyl groups at positions 3, 4 and 5, respectively.


name: methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

description: Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut-.


propanoic acid

A short-chain saturated fatty acid comprising ethane attached to the carbon of a carboxy group.


name: 1433Z_HUMAN 14-3-3 protein zeta/delta (sprot)

description: A 14-3-3 protein zeta/delta that is encoded in the genome of human.


name: 1433B_HUMAN 14-3-3 protein beta/alpha (sprot)

description: A 14-3-3 protein beta/alpha that is encoded in the genome of human.


name: 1433G_HUMAN 14-3-3 protein gamma (sprot)

description: A 14-3-3 protein gamma that is encoded in the genome of human.


SEPIAPTERIN

A sepiapterin with L configuration.


PDXK_HUMAN Pyridoxal kinase (sprot)

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


PLPP_HUMAN Chronophin (sprot)

A pyridoxal phosphate phosphatase that is encoded in the genome of human.


name: PHOP2_HUMAN Pyridoxal phosphate phosphatase PHOSPHO2 (sprot)

description: A pyridoxal phosphate phosphatase PHOSPHO2 that is encoded in the genome of human.


pyridoxine

A hydroxymethylpyridine with hydroxymethyl groups at positions 4 and 5, a hydroxy group at position 3 and a methyl group at position 2. The 4-methanol form of vitamin B6, it is converted intoto pyridoxal phosphate which is a coenzyme for synthesis of amino acids, neurotransmitters, sphingolipids and aminolevulinic acid.


name: sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

description: An autosomal recessive condition that is caused by mutation(s) in the MOCS1 gene, encoding molybdenum cofactor biosynthesis protein 1. it is characterized by poor feeding, encephalopathy, seizures and dysmorphic facial features.


name: THTM_HUMAN 3-mercaptopyruvate sulfurtransferase (sprot)

description: A 3-mercaptopyruvate sulfurtransferase that is encoded in the genome of human.


name: THTR_HUMAN Thiosulfate sulfurtransferase (sprot)

description: A thiosulfate sulfurtransferase that is encoded in the genome of human.


name: SUOX_HUMAN Sulfite oxidase, mitochondrial (sprot)

description: A sulfite oxidase, mitochondrial that is encoded in the genome of human.


name: TSTD1_HUMAN Thiosulfate:glutathione sulfurtransferase (sprot)

description: A thiosulfate:glutathione sulfurtransferase that is encoded in the genome of human.


protoporphyria, erythropoietic, 1

description: Erythropoietic protoporphyria caused by a compound heterozygous or homozygous mutation in the gene encoding ferrochelatase (FECH) on chromosome 18q21.


name: HEM6_HUMAN Oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial (sprot)

description: An oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial that is encoded in the genome of human.


name: PPOX_HUMAN Protoporphyrinogen oxidase (sprot)

description: A protoporphyrinogen oxidase that is encoded in the genome of human.


name: HEMH_HUMAN Ferrochelatase, mitochondrial (sprot)

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


FRIL_HUMAN Ferritin light chain (sprot)

A ferritin light chain that is encoded in the genome of human.


name: Q53FU1_HUMAN Ferrochelatase (Fragment) (trembl)


protoporphyrin

A cyclic tetrapyrrole that consists of porphyrin bearing four methyl substituents at positions 3, 8, 13 and 17, two vinyl substituents at positions 7 and 12 and two 2-carboxyethyl substituents at positions 2 and 18. The parent of the class of protoporphyrins.


Barth syndrome

description: Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.


name: MOT3_HUMAN Monocarboxylate transporter 3 (sprot)

description: A monocarboxylate transporter 3 that is encoded in the genome of human.


name: MOT7_HUMAN Monocarboxylate transporter 7 (sprot)

description: A monocarboxylate transporter 7 that is encoded in the genome of human.


name: MOT6_HUMAN Monocarboxylate transporter 6 (sprot)

description: A monocarboxylate transporter 6 that is encoded in the genome of human.


name: MOT5_HUMAN Monocarboxylate transporter 5 (sprot)

description: A monocarboxylate transporter 5 that is encoded in the genome of human.


name: PISD_HUMAN Phosphatidylserine decarboxylase proenzyme, mitochondrial (sprot)

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


name: LDHD_HUMAN Probable D-lactate dehydrogenase, mitochondrial (sprot)

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


name: SO2A1_HUMAN Solute carrier organic anion transporter family member 2A1 (sprot)

description: A solute carrier organic anion transporter family member 2A1 that is encoded in the genome of human.


pyruvic acid

A 2-oxo monocarboxylic acid that is the 2-keto derivative of propionic acid. It is a metabolite obtained during glycolysis.


Brown-Vialetto-van Laere syndrome 1

description: Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A3 gene.


name: PPAL_HUMAN Lysosomal acid phosphatase (sprot)

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


name: PPAC_HUMAN Low molecular weight phosphotyrosine protein phosphatase (sprot)

description: A low molecular weight phosphotyrosine protein phosphatase that is encoded in the genome of human.


name: PPA5_HUMAN Tartrate-resistant acid phosphatase type 5 (sprot)

description: A tartrate-resistant acid phosphatase type 5 that is encoded in the genome of human.


RIFK_HUMAN Riboflavin kinase (sprot)

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


name: S52A1_HUMAN Solute carrier family 52, riboflavin transporter, member 1 (sprot)

description: A solute carrier family 52, riboflavin transporter, member 1 that is encoded in the genome of human.


name: PPA6_HUMAN Lysophosphatidic acid phosphatase type 6 (sprot)

description: A lysophosphatidic acid phosphatase type 6 that is encoded in the genome of human.


name: PPAT_HUMAN Testicular acid phosphatase (sprot)

description: A testicular acid phosphatase that is encoded in the genome of human.


riboflavin

D-Ribitol in which the hydroxy group at position 5 is substituted by a 7,8-dimethyl-2,4-dioxo-3,4-dihydrobenzo[g]pteridin-10(2H)-yl moiety. It is a nutritional factor found in milk, eggs, malted barley, liver, kidney, heart, and leafy vegetables, but the richest natural source is yeast. The free form occurs only in the retina of the eye, in whey, and in urine; its principal forms in tissues and cells are as flavin mononucleotide and flavin-adenine dinucleotide.


acute intermittent porphyria

description: Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias. It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations.


name: HEM2_HUMAN Delta-aminolevulinic acid dehydratase (sprot)

description: A delta-aminolevulinic acid dehydratase that is encoded in the genome of human.


porphobilinogen

A dicarboxylic acid that is pyrole bearing aminomethyl, carboxymethyl and 2-carboxyethyl substituents at positions 2, 3 and 4 respectively.


name: DHSO_HUMAN Sorbitol dehydrogenase (sprot)

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


sorbitol

The D-enantiomer of glucitol (also known as D-sorbitol).


name: pituitary hormone deficiency, combined, 1

description: Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the POU1F1 gene.


Pendred syndrome

description: Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter.


name: hypothyroidism, congenital, nongoitrous, 2

description: A congenital hypothyroidism that has material basis in heterozygous mutation in the PAX8 gene on chromosome 2q13.


description: Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.


name: IOD1_HUMAN Type I iodothyronine deiodinase (sprot)

description: A type I iodothyronine deiodinase that is encoded in the genome of human.


name: IOD2_HUMAN Type II iodothyronine deiodinase (sprot)

description: A type II iodothyronine deiodinase that is encoded in the genome of human.


TTHY_HUMAN Transthyretin (sprot)

A transthyretin that is encoded in the genome of human.


name: THBG_HUMAN Thyroxine-binding globulin (sprot)

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


name: IOD3_HUMAN Thyroxine 5-deiodinase (sprot)

description: A thyroxine 5-deiodinase that is encoded in the genome of human.


The L-enantiomer of thyroxine.


name: Thioguanine Metabolism Pathway,Drug Metabolism


name: FPGT_HUMAN Fucose-1-phosphate guanylyltransferase (sprot)

description: A fucose-1-phosphate guanylyltransferase (human), isoforms 2, 5, and 6.


name: PAPS2_HUMAN Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2 (sprot)

description: A bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2 that is encoded in the genome of human.


name: METK2_HUMAN S-adenosylmethionine synthase isoform type-2 (sprot)

description: An S-adenosylmethionine synthetase isoform type-2 that is encoded in the genome of human.


name: METK1_HUMAN S-adenosylmethionine synthase isoform type-1 (sprot)

description: An S-adenosylmethionine synthetase isoform type-1 that is encoded in the genome of human.


name: DUT_HUMAN Deoxyuridine 5'-triphosphate nucleotidohydrolase, mitochondrial (sprot)

description: A deoxyuridine 5'-triphosphate nucleotidohydrolase, mitochondrial that is encoded in the genome of human.


name: GGPPS_HUMAN Geranylgeranyl pyrophosphate synthase (sprot)

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


name: FPPS_HUMAN Farnesyl pyrophosphate synthase (sprot)

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


DPOLB_HUMAN DNA polymerase beta (sprot)

A DNA polymerase beta that is encoded in the genome of human.


name: DPOLA_HUMAN DNA polymerase alpha catalytic subunit (sprot)

description: A DNA polymerase alpha catalytic subunit that is encoded in the genome of human.


name: DPOLL_HUMAN DNA polymerase lambda (sprot)

description: A DNA polymerase lambda that is encoded in the genome of human.


name: DPOE4_HUMAN DNA polymerase epsilon subunit 4 (sprot)

description: A DNA polymerase epsilon subunit 4 that is encoded in the genome of human.


POLH_HUMAN DNA polymerase eta (sprot)

A DNA polymerase eta that is encoded in the genome of human.


name: DPOD1_HUMAN DNA polymerase delta catalytic subunit (sprot)

description: A DNA polymerase delta catalytic subunit that is encoded in the genome of human.


name: REV3L_HUMAN DNA polymerase zeta catalytic subunit (sprot)

description: A DNA polymerase zeta catalytic subunit that is encoded in the genome of human.


name: DPOE1_HUMAN DNA polymerase epsilon catalytic subunit A (sprot)

description: A DNA polymerase epsilon catalytic subunit A that is encoded in the genome of human.


name: DPOLM_HUMAN DNA-directed DNA/RNA polymerase mu (sprot)

description: A DNA-directed DNA/RNA polymerase mu that is encoded in the genome of human.


POLK_HUMAN DNA polymerase kappa (sprot)

A DNA polymerase kappa that is encoded in the genome of human.


name: DPOE3_HUMAN DNA polymerase epsilon subunit 3 (sprot)

description: A DNA polymerase epsilon subunit 3 that is encoded in the genome of human.


name: DPOG1_HUMAN DNA polymerase subunit gamma-1 (sprot)

description: A DNA polymerase subunit gamma-1 that is encoded in the genome of human.


POLI_HUMAN DNA polymerase iota (sprot)

A DNA polymerase iota that is encoded in the genome of human.


name: DPOE2_HUMAN DNA polymerase epsilon subunit 2 (sprot)

description: A DNA polymerase epsilon subunit 2 that is encoded in the genome of human.


name: ANPRB_HUMAN Atrial natriuretic peptide receptor 2 (sprot)

description: An atrial natriuretic peptide receptor 2 that is encoded in the genome of human.


name: GCYB1_HUMAN Guanylate cyclase soluble subunit beta-1 (sprot)

description: A guanylate cyclase soluble subunit beta-1 that is encoded in the genome of human.


name: GUC2D_HUMAN Retinal guanylyl cyclase 1 (sprot)

description: A retinal guanylyl cyclase 1 that is encoded in the genome of human.