rs1417067364
This variant is located in the ALDH5A1 gene.
▶ClinVar annotation
Succinate-semialdehyde dehydrogenase deficiency
View on ClinVar →About 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]
View all ALDH5A1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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