Entrez gene ID | | 7915 |
Official gene symbol | | ALDH5A1 |
Full name | | aldehyde dehydrogenase 5 family, member A1 |
Aliases | | ,SSADH,SSDH, |
Gene 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] |
Location | | Chromosome: 6 Locus: 6p22.2-p22.3 |
Gene position | | 24495197 - 24537435 Map Viewer |
Gene orientation | | plus |
Gene size | | 42239 bp |
Gene sequence |
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OMIM ID | | 610045 |
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