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Gene : GCDH Homo sapiens

Name  ? glutaryl-CoA dehydrogenase Cytological Location  19p13.13
Brief Description  glutaryl-CoA dehydrogenase
Description  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]
  • synonyms:
  • uc002mvq.5,
  • ACAD5,
  • NM_000159,
  • OTTHUMG00000180561,
  • HGNC:4189,
  • GCD,
  • GCDH,
  • ACAD5,
  • glutaryl-Coenzyme A dehydrogenase,
  • AF012342
  • identifiers:
  • 2639,
  • ENSG00000105607,
  • GCDH

Genome feature

Region: gene ? Length: 24217  
Location: 19:12891129-12915345 Cyto location: 19p13.13


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Disease

1 Diseases

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3753 SN Ps

5 Cross References

20 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results