ALDH5A1, Official Symbol ALDH5A1provided by HGNC Official Full Name aldehyde dehydrogenase 5 family member A1provided by HGNC Primary source HGNC:HGNC:408 See related Ensembl:ENSG00000112294 MIM:610045; AllianceGenome:HGNC:408 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SSDH; SSADH Summary 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. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in liver (RPKM 26.0), brain (RPKM 18.3) and 23 other tissues See more Orthologs mouse all