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 . 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.
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Protein Aliases: aldehyde dehydrogenase 1, mitochondrial; aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase); Aldehyde dehydrogenase family 5 member A1; aldehyde dehydrogenase family 5, subfamily A1; mitochondrial succinate semialdehyde dehydrogenase; NAD(+)-dependent succinic semialdehyde dehydrogenase; Succinate-semialdehyde dehydrogenase, mitochondrial; succinic semialdehyde dehydrogenase
Gene Aliases: 6330403E24Rik; Ahd-1; Ahd1; ALDH5A1; D630032B01Rik; OTTMUSG00000000613; SSADH; SSDH; Ssdh1