Recombinant Human Glutaryl-CoA dehydrogenase, mitochondrial (GCDH)

Uniprot Id

Q92947

Target Species

Human

Target Name

GCDH

Target Full Name

Glutaryl-CoA dehydrogenase, mitochondrial

Target Function

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. Isoform Short is inactive.

Target Involvement

Glutaric aciduria 1 (GA1)

Target Subcellular Location

Mitochondrion matrix.

Target Protein Families

Acyl-CoA dehydrogenase family

Target Tissue Specificity

Isoform Long and isoform Short are expressed in fibroblasts and liver.

Target Synonyms

ACAD5 ; EC 1.3.99.7; GCD; Gcdh; GCDH_HUMAN; Glutaryl CoA dehydrogenase; Glutaryl CoA dehydrogenase; mitochondrial ; Glutaryl Coenzyme A dehydrogenase; Glutaryl-CoA dehydrogenase; mitochondrial; MS781

Target Background

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.