Aldh5A1 is a member of the aldehyde dehydrogenase superfamily, a group of NAD(P)(+)-dependent enzymes that catalyze the oxidation of a wide spectrum of aliphatic and aromatic aldehydes. Aldehyde dehydrogenase enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. Aldh5A1 is a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-hydroxybutyricaciduria, results in a disorder of the neurotransmitter 4-aminobutyric acid (GABA). Symptoms usually include static encephalopathy, associated with developmental delays, hypotonia, ataxia, speech defects, and seizures. At least two isoforms of Aldh5A1 are known to exist.
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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