Glutaryl-Coenzyme A Dehydrogenase (GCDH) Human Recombinant Protein

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]

GCDH: 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. Defects in GCDH are the cause of glutaric aciduria type 1 (GA1). GA1 is an autosomal recessive metabolic disorder characterized by progressive dystonia and athetosis due to gliosis and neuronal loss in the basal ganglia. Belongs to the acyl-CoA dehydrogenase family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Mitochondrial; Lipid Metabolism - fatty acid; Amino Acid Metabolism - lysine degradation; Oxidoreductase; Amino Acid Metabolism - tryptophan; EC 1.3.8.6

Chromosomal Location of Human Ortholog: 19p13.2

Cellular Component: mitochondrion; mitochondrial matrix; mitochondrial inner membrane

Molecular Function: FAD binding; acyl-CoA binding; glutaryl-CoA dehydrogenase activity

Biological Process: lysine catabolic process; tryptophan metabolic process; fatty acid oxidation; acyl-CoA biosynthetic process

Disease: Glutaric Acidemia I