{"symbol":"ALDH5A1","synonyms":["SSDH","SSADH"],"name":"aldehyde dehydrogenase 5 family, member A1","description":"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]","ncbiEntrezGeneId":7915,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/7915","proteins":[{"symbol":"SSDH_HUMAN","href":"/api/1.0/protein/SSDH_HUMAN"}],"hgncRootFamilies":[{"name":"Aldehyde dehydrogenases (ALDH)","href":"/api/1.0/gene_family/Aldehyde+dehydrogenases+%28ALDH%29"}]}