Glb1 - galactosidase, beta 1 Gene

种属: Mus musculus

同用名: Bge; Bgl; Bgs; Bgt; Bgl-e; Bgl-s; Bgl-t; C130097A14Rik

关于 Glb1

功能概要

This gene encodes a preproprotein that is proteolytically cleaved to yield a signal peptide and a proproptein that is subsequently processed to generate the active mature peptide. The encoded protein is a lysosomal enzyme that catalyzes the hydrolysis of terminal beta-D-galactose residues in various substrates like lactose, ganglioside GM1 and Other glycoproteins. Mutations in the human gene are associated with GM1-gangliosidosis and Morquio B syndrome. Disruption of the mouse gene mirrors the symptoms of human gangliosidosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]