{"symbol":"GLB1","synonyms":["MPS4B","EBP","ELNR1"],"name":"galactosidase, beta 1","description":"This gene encodes a member of the glycosyl hydrolase 35 family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature lysosomal enzyme. This enzyme catalyzes the hydrolysis of a terminal beta-linked galactose residue from ganglioside substrates and other glycoconjugates. Mutations in this gene may result in GM1-gangliosidosis and Morquio B syndrome. [provided by RefSeq, Nov 2015]","ncbiEntrezGeneId":2720,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/2720","proteins":[{"symbol":"BGAL_HUMAN","href":"/api/1.0/protein/BGAL_HUMAN"}],"hgncRootFamilies":[]}