Aldehyde Dehydrogenase 5 Family, Member A1 (ALDH5A1)

ALDH5A1 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 the human, genomic Southern blots indicated that the 2 SSADH transcripts are encoded by a single-copy gene more than 20 kb long. The mammalian SSADH bears significant homology to bacterial NADP(+)-SSADH and conserved regions of aldehyde dehydrogenases, suggesting that it is a member of the aldehyde dehydrogenase superfamily of proteins. SSADH deficiency had been diagnosed in approximately 350 patients.