Description

The GCDH gene (glutaryl-CoA dehydrogenase) [HGNC Gene ID:4189] is located on chromosome 19p13.2. The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family. It catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor. The enzyme exists in the mitochondrial matrix as a homotetramer of 45-kD subunits. Mutations in this gene result in the metabolic disorder glutaric aciduria type 1, which is also known as glutaric acidemia type I. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 12. [provided by RefSeq, Mar 2013] [NCBI Gene ID:2639] Source: National Center for Biotechnology Information (NCBI) Gene

Basic Part Properties

Part Name
GCDH gene
Part Display Name
GCDH gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2014-07-11
Construct for LOINC Short Name
GCDH

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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP185373-0

Language Variants Get Info

TagLanguageTranslation
zh-CNChinese (China)GCDH 基因
Synonyms: 戊二酰辅酶 A 脱氢酶基因;戊二酰-CoA 脱氢酶基因;戊二酰基辅酶 A 脱氢酶基因;戊二酰基-CoA 脱氢酶基因;Glutaryl-CoA dehydrogenase gene;glutaryl-Coenzyme A dehydrogenase (GCDH) gene;ACAD5;GCD
es-ESSpanish (Spain)Gen GCDH
it-ITItalian (Italy)GCDH, gene
Synonyms: Gene GCDH
tr-TRTurkish (Turkey)GCDH geni
nl-NLDutch (Netherlands)GCDH-gen
Synonyms: GCDH gen
fr-FRFrench (France)GCDH gène
pl-PLPolish (Poland)GCDH gen
Synonyms: Gen GCDH
el-GRGreek (Greece)Γονίδιο GCDH
Synonyms: Γονίδιο GCDH