{"symbol":"GLA","synonyms":["GALA"],"name":"galactosidase, alpha","description":"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]","ncbiEntrezGeneId":2717,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/2717","proteins":[{"symbol":"AGAL_HUMAN","href":"/api/1.0/protein/AGAL_HUMAN"}],"hgncRootFamilies":[]}