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Immunogen sequence: FDGCYCDSLE NLADGYKHMS LALNRTGRSI VYSCEWPLYM WPFQKPNYTE IRQYCNHWRN FADIDDSWKS IKSILDWTSF NQERIVDVAG PGGWNDPDML VIGNFGLSWN QQVTQMA
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。
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
基因别名: GALA; GLA
UniProt ID: (Human) P06280
Entrez Gene ID: (Human) 2717