Aldehyde dehydrogenase 5 family, member A1

2W8N, 2W8O, 2W8P, 2W8Q, 2W8R7915214579ENSG00000112294ENSMUSG00000035936P51649Q8BWF0NM_170740NM_001080NM_001368954NM_172532NP_001071NP_733936NP_001355883NP_766120Succinate-semialdehyde dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the ALDH5A1 gene. Succinate-semialdehyde dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the ALDH5A1 gene. 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.