HAP1 knockout cell lines

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HAP1 Parental Cell Lines available

ALDH5A1 ( Human )

Entrez Gene 7915 entrezgene 7915
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aldehyde dehydrogenase 5 family member A1

Alias

SSADH | SSDH

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].