Gene Symbol | Glb1 |
Entrez Gene ID | 12091 |
Full Name | galactosidase, beta 1 |
Synonyms | AW125515,Bge,Bgl,Bgl-e,Bgl-s,Bgl-t,Bgs,Bgt,C130097A14Rik |
General protein information |
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Gene Type | protein-coding |
Organism | Mus musculus(house mouse) |
Genome | |
Summary | 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]. |