ALDH5A1 aldehyde dehydrogenase 5 family member A1
Gene ID: 7915, updated on 5-Mar-2024Gene type: protein coding
Also known as: SSDH; SSADH
- See all available tests in GTR for this gene
- Go to complete Gene record for ALDH5A1
- Go to Variation Viewer for ALDH5A1 variants
Summary
This protein belongs to the aldehyde dehydrogenase family of proteins. This gene encodes a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-hydroxybutyricaciduria, is a rare inborn error in the metabolism of the neurotransmitter 4-aminobutyric acid (GABA). In response to the defect, physiologic fluids from patients accumulate GHB, a compound with numerous neuromodulatory properties. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. GeneReviews: Not available | |
| Succinate-semialdehyde dehydrogenase deficiency | See labs |
Genomic context
- Location:
- 6p22.3
- Sequence:
- Chromosome: 6; NC_000006.12 (24494969..24537207)
- Total number of exons:
- 11
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ALDH5A1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ALDH5A1 @ LOVD
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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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