GCDH glutaryl-CoA dehydrogenase
Gene ID: 2639, updated on 5-Mar-2024Gene type: protein coding
Also known as: GCD; ACAD5
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- Go to complete Gene record for GCDH
- Go to Variation Viewer for GCDH variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| An atlas of genetic influences on human blood metabolites. GeneReviews: Not available | |
| Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles. GeneReviews: Not available | |
| Glutaric aciduria, type 1 | See labs |
| Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. GeneReviews: Not available |
Genomic context
- Location:
- 19p13.13
- Sequence:
- Chromosome: 19; NC_000019.10 (12891129..12899999)
- Total number of exons:
- 12
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for GCDH variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- GCDH database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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