Tag/Conjugate
Unconjugated
Antigen Description
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]
Function
protein homodimerization activity; succinate-semialdehyde dehydrogenase (NAD+) activity; succinate-semialdehyde dehydrogenase (NAD+) activity; succinate-semialdehyde dehydrogenase [NAD(P)+] activity
Synonyms
ALDH5A1; aldehyde dehydrogenase 5 family, member A1; SSDH; SSADH; succinate-semialdehyde dehydrogenase, mitochondrial; aldehyde dehydrogenase 5 family member A1; mitochondrial succinate semialdehyde dehydrogenase; NAD(+)-dependent succinic semialdehyde dehydrogenase
Citations
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Paylakhi, SH; Fan, JB; et al. Effect of PITX2 knockdown on transcriptome of primary human trabecular meshwork cell cultures. MOLECULAR VISION 17:1209-1221(2011).
Paylakhi, SH; Yazdani, S; et al. Non-housekeeping genes expressed in human trabecular meshwork cell cultures. MOLECULAR VISION 18:241-254(2012).