ALDH5A1 抗体
(Aldehyde Dehydrogenase 5 Family, Member A1 (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].
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Latest Publications for our ALDH5A1 抗体
: "A fluorescence-coupled assay for gamma aminobutyric acid (GABA) reveals metabolic stress-induced modulation of GABA content in neuroendocrine cancer." in: PLoS ONE, Vol. 9, Issue 2, pp. e88667, (2014) (PubMed).: "Human variation in alcohol response is influenced by variation in neuronal signaling genes." in: Alcoholism, clinical and experimental research, Vol. 34, Issue 5, pp. 800-12, (2010) (PubMed).
: "Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (gamma-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1-/- ..." in: Journal of inherited metabolic disease, Vol. 30, Issue 3, pp. 279-94, (2007) (PubMed).
: "SSADH variation in primates: intra- and interspecific data on a gene with a potential role in human cognitive functions." in: Journal of molecular evolution, Vol. 63, Issue 1, pp. 54-68, (2006) (PubMed).
: "A functional polymorphism in the succinate-semialdehyde dehydrogenase (aldehyde dehydrogenase 5 family, member A1) gene is associated with cognitive ability." in: Molecular psychiatry, Vol. 9, Issue 6, pp. 582-6, (2004) (PubMed).
Aliases for ALDH5A1 抗体
aldehyde dehydrogenase 5 family member A1 (ALDH5A1) 抗体aldehyde dehydrogenase 5 family member A1 (aldh5a1) 抗体
aldehyde dehydrogenase 5 family, member A1 (Aldh5a1) 抗体
aldhehyde dehydrogenase family 5, subfamily A1 (Aldh5a1) 抗体
6330403E24Rik 抗体
Ahd-1 抗体
Ahd1 抗体
D630032B01Rik 抗体
OTTMUSG00000000613 抗体
SSADH 抗体
Ssadh 抗体
SSDH 抗体
Ssdh1 抗体
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