ALDH5A1 Products

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]

Bioinformatics

Entrez	7915 Human
Uniprot	NP_001071.1 Human
Product By Gene ID	7915
Alternate Names	aldehyde dehydrogenase 5 family, member A1 EC 1.2.1 EC 1.2.1.24 NAD(+)-dependent succinic semialdehyde dehydrogenase SSADHmitochondrial