ALDH5A1

Also known as SSADH, SSDH, Aldehyde dehydrogenase 5 family, member A1, aldehyde dehydrogenase 5 family member A1

protein-coding gene in the species Homo sapiens

Gene data

ALDH5A1

Name: aldehyde dehydrogenase 5 family member A1
Type: protein-coding
Position: 24,494,788–24,544,150 (+)
Aliases: SSADH, SSDH
Ensembl: ENSG00000112294
RefSeq RNA: NM_001080.3, NM_001368954.1, NM_170740.1
RefSeq protein: NP_001071.1, NP_001355883.1, NP_733936.1

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].