Recombinant fusion protein containing a sequence corresponding to amino acids 150-429 of human Galactosidase alpha (Galactosidase alpha (GLA)) (NP_000160.1).
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.,GLA,GALA,Cardiovascular,Blood,Blood Cell Antigens,GLA