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aldh5a1

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Official Full Name
aldehyde dehydrogenase 5 family, member A1
Background
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.
Synonyms
ALDH5A1; aldehyde dehydrogenase 5 family, member A1; succinate-semialdehyde dehydrogenase, mitochondrial; SSADH; SSDH; succinate semialdehyde dehydrogenase; aldehyde dehydrogenase family 5 member A1; mitochondrial succinate semialdehyde dehydrogenase; NAD; aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase)