ALDH5A1

Also known as SSADH, SSDH, Aldehyde dehydrogenase 5 family, member A1, aldehyde dehydrogenase 5 family member A1

protein-coding gene in the species Homo sapiens

In the Vinony graph

Within Vinony's link graph, ALDH5A1 is referenced by 25 other articles, and connects out to mitochondrion, PubMed and human chromosome 6.

It is catalogued under the topic Genes on human chromosome 6.

Its subject is documented across 5 Wikipedia language editions.

Gene data

ALDH5A1

Name: aldehyde dehydrogenase 5 family member A1
Type: protein-coding
Position: 24,494,788–24,544,150 (+)
Aliases: SSADH, SSDH
Ensembl: ENSG00000112294
RefSeq RNA: NM_001080.3, NM_001368954.1, NM_170740.1
RefSeq protein: NP_001071.1, NP_001355883.1, NP_733936.1

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].