| 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 |
|
| 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]. |
User Manual