ALDH5A1

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]

Description

aldehyde dehydrogenase 5 family, member A1

Protein family

Enzymes, Mapped to UniProt SWISS-PROT, Potential transmembrane proteins

Chromosome

6:p22.3 (24495080 - 24537435)

Ensembl ID

ENSG00000112294  (ver. 71.37)

Orthologs

Mouse Aldh5a1: ENSMUSG00000035936

Human splice variants
Mouse splice variants