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ALDH5A1 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.
Gene Name: | aldehyde dehydrogenase 5 family, member A1 |
Synonyms: | ALDH5A1, SSADH, SSDH |
Target Sequences: | NM_001080 NP_001071.1 P51649 |
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