GCDH is a 438 amino acid protein that localizes to the mitochondrial matrix and belongs to the acyl-CoA dehydrogenase family. Existing as a homotetramer, GCDH uses FAD as a cofactor to catalyze 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. While GCDH exists as both a long and short isoform, only the long isoform is a functionally active protein. Defects in the gene encoding GCDH are the cause of glutaric acidemia type I (GA-I), an autosomal recessive disorder that is characterized by the accumulation of glutaconic acid and is associated with such symptoms as progressive dystonia and athetosis due to gliosis and neuronal loss in the basal ganglia.
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.
Subunit:
Homotetramer.
Subcellular Location:
Mitochondrion matrix.
Tissue Specificity:
Isoform 1 and isoform 2 are expressed in fibroblasts and liver.
DISEASE:
Defects in GCDH are the cause of glutaric aciduria type 1 (GA1) [MIM:231670]. GA1 is an autosomal recessive metabolic disorder characterized by progressive dystonia and athetosis due to gliosis and neuronal loss in the basal ganglia.
Similarity:
Belongs to the acyl-CoA dehydrogenase family.
SWISS:
Q92947
Gene ID:
2639
Database links:
Entrez Gene: 2639 Human
Entrez Gene: 270076 Mouse
Entrez Gene: 364975 Rat
Omim: 601761 Human
SwissProt: Q92947 Human
SwissProt: Q60759 Mouse
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