Aliases for ALDH5A1 Gene
External Ids 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 juvenile absence epilepsy. Among its related pathways are Metabolism and Transmission across Chemical Synapses. GO annotations related to this gene include protein homodimerization activity and succinate-semialdehyde dehydrogenase [NAD(P)+] activity.
UniProtKB/Swiss-Prot for ALDH5A1 Gene
Catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA).