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GLA / Alpha Galactosidase 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.
Gene Name: | galactosidase, alpha |
Synonyms: | GLA, Alpha-D-galactosidase A, Alpha-galactosidase A, Galactosidase, alpha, Melibiase, Alpha-gal A, GALA |
Target Sequences: | NM_000169 NP_000160.1 P06280 |
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