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Shipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.
Constituents: 10% Glycerol, 0.1M Sodium chloride, 20mM Tris HCl, 1mM EDTA, 1mM DTT, pH 8.0
Aldedehyde dehydrogenase 5 family
Aldehyde dehydrogenase 5 family member A1
Aldehyde dehydrogenase 5A1
Catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA).
Brain, pancreas, heart, liver, skeletal muscle and kidney. Lower in placenta.
Amino-acid degradation; 4-aminobutanoate degradation.
Defects in ALDH5A1 are the cause of succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]. SSADH deficiency is a rare inborn error in the metabolism of 4-aminobutyric acid (GABA) which leads to accumulation of 4-hydroxybutyric acid in physiologic fluids of patients. The disease is characterized by severe ataxia and by mildly retarded psychomotor development.
Belongs to the aldehyde dehydrogenase family.
Information by UniProt
Recombinant Human ALDH5A1 protein 图像
Recombinant Human ALDH5A1 protein (ab99429)参考文献
has not yet been referenced specifically in any publications.
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