Products

Immunoprecipitation-Western Blot

Entrez GeneID

Gene Name

ALDH5A1

Gene Alias

SSADH, SSDH

Gene Description

aldehyde dehydrogenase 5 family, member A1

Omim ID

Gene Ontology

Gene Summary

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

Other Designations

NAD(+)-dependent succinic semialdehyde dehydrogenase|OTTHUMP00000016088|aldehyde dehydrogenase 5A1|mitochondrial succinate semialdehyde dehydrogenase|succinate-semialdehyde dehydrogenase