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Human Alpha-Galactosidase A/GLA quantitates human Alpha-Galactosidase A/GLA in serum, plasma, supernatant. The assay will exclusively recognize both natural and recombinant human Alpha-Galactosidase A/GLA.
This gene encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. This enzyme predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galactose and glucose. A variety of mutations in this gene affect the synthesis, processing, and stability of this enzyme, which causes Fabry disease, a rare lysosomal storage disorder that results from a failure to catabolize alpha-D-galactosyl glycolipid moieties.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
基因别名 : GALA, GLA
基因ID : (Human) 2717
基因符号 : GLA
蛋白别名 : agalsidase alfa, Alpha-D-galactosidase A, Alpha-D-galactoside galactohydrolase, alpha-D-galactoside galactohydrolase 1, alpha-gal A, Alpha-galactosidase A, galactosidase, alpha, Galactosylgalactosylglucosylceramidase GLA, Melibiase
UniProt ID (Human) P06280