Aliases for ALDH5A1 Gene
External Ids for ALDH5A1 Gene
Previous GeneCards Identifiers for 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 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]
GeneCards Summary for ALDH5A1 Gene
ALDH5A1 (Aldehyde Dehydrogenase 5 Family Member A1) is a Protein Coding gene. Diseases associated with ALDH5A1 include succinic semialdehyde dehydrogenase deficiency and gamma-amino butyric acid metabolism disorder. Among its related pathways are Metabolism and Butanoate metabolism. GO annotations related to this gene include protein homodimerization activity and aldehyde dehydrogenase (NAD) activity.
UniProtKB/Swiss-Prot for ALDH5A1 Gene
Catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA).