Rabbit Monoclonal Antibody to Galactosidase alpha

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]