amino acid metabolic disorder

Summary
Synonym
  • inborn errors of amino acid metabolism
Definition
An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids.
Super Class
inherited metabolic disorder
Disease Ontology
DOID:9252
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
GARD
WikiPathways (from TogoID)
Related Genes
Displaying entries 11 - 19 of 19 in total
Gene ID Gene Symbol Description Source
6472 SHMT2 serine hydroxymethyltransferase 2
6897 TARS1 threonyl-tRNA synthetase 1
8564 KMO kynurenine 3-monooxygenase
11112 HIBADH 3-hydroxyisobutyrate dehydrogenase
26227 PHGDH phosphoglycerate dehydrogenase
26275 HIBCH 3-hydroxyisobutyryl-CoA hydrolase
54511 HMGCLL1 3-hydroxy-3-methylglutaryl-CoA lyase like 1
80222 TARS2 threonyl-tRNA synthetase 2, mitochondrial
123283 TARS3 threonyl-tRNA synthetase 3
Displaying entries 1 - 10 of 12 in total
Gene ID Gene Symbol Description Source
12036 Bcat2 branched chain aminotransferase 2, mitochondrial
14645 Glul glutamate-ammonia ligase
15356 Hmgcl 3-hydroxy-3-methylglutaryl-Coenzyme A lyase
20425 Shmt1 serine hydroxymethyltransferase 1 (soluble)
56454 Aldh18a1 aldehyde dehydrogenase 18 family, member A1
58875 Hibadh 3-hydroxyisobutyrate dehydrogenase
66904 Pccb propionyl Coenzyme A carboxylase, beta polypeptide
76282 Gpt glutamic pyruvic transaminase, soluble
107869 Cth cystathionine gamma lyase
108037 Shmt2 serine hydroxymethyltransferase 2 (mitochondrial)
Displaying all 4 entries
Gene ID Gene Symbol Description Source
24513 Ivd isovaleryl-CoA dehydrogenase
63938 Hibadh 3-hydroxyisobutyrate dehydrogenase
140547 Echs1 enoyl-CoA hydratase, short chain 1
687008 Pcca propionyl-CoA carboxylase subunit alpha
Displaying all 2 entries
Gene ID Gene Symbol Description Source
851606 EHD3 mitochondrial 37S ribosomal protein EHD3
853374 ARG2 acetyl-CoA:L-glutamate N-acetyltransferase

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Acknowledgements

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Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024