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gla

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Official Full Name
galactosidase, alpha
Background
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. [provided by RefSeq, Jul 2008]
Synonyms
GLA; galactosidase, alpha; GALA; alpha-galactosidase A; melibiase; alpha-gal A; agalsidase alfa; alpha-D-galactosidase A; alpha-D-galactoside galactohydrolase 1; zgc:101584