Disease-gene associations mined from literature

Literature associating GCDH and L-2-hydroxyglutaric aciduria

GCDH [ENSP00000222214]

Glutaryl-CoA dehydrogenase, mitochondrial; 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; Belongs to the acyl-CoA dehydrogenase family.

Synonyms:  GCDH,  A0A024R7F9,  GCDH-001,  GCDH-002,  GCDH-003 ...

Linkouts:  STRING  Pharos  UniProt  OMIM