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Aldehyde dehydrogenase 5 family, member A1 : ウィキペディア英語版 | Aldehyde dehydrogenase 5 family, member A1
Succinate-semialdehyde dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the ''ALDH5A1'' gene.〔(【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7915 )〕 == Function ==
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 γ-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.〔
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