GCDH, Official Symbol GCDHprovided by HGNC Official Full Name glutaryl-CoA dehydrogenaseprovided by HGNC Primary source HGNC:HGNC:4189 See related Ensembl:ENSG00000105607 MIM:608801; AllianceGenome:HGNC:4189 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GCD; ACAD5 Summary 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] Expression Ubiquitous expression in liver (RPKM 11.6), kidney (RPKM 10.0) and 25 other tissues See more Orthologs mouse all