GCDH

Also known as ACAD5, GCD, glutaryl-CoA dehydrogenase, Glutaryl-Coenzyme A dehydrogenase

protein-coding gene in the species Homo sapiens

Gene data

GCDH

Name: glutaryl-CoA dehydrogenase
Type: protein-coding
Position: 12,891,128–12,915,126 (+)
Aliases: ACAD5, GCD
Ensembl: ENSG00000105607
RefSeq RNA: NM_000159.4, NM_013976.5, NR_102316.1, NR_102317.1
RefSeq protein: NP_000150.1, NP_039663.1

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].