1. Gene
  2. Glb1 - galactosidase, beta 1 Gene

Glb1 - galactosidase, beta 1 Gene

Mus musculus

Also known as Bge; Bgl; Bgs; Bgt; Bgl-e; Bgl-s; Bgl-t; C130097A14Rik

Gene ID: 12091 | Gene type: protein coding

About Glb1

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]

Glb1 Products(1)

mRNA Protein Name
NM_009752.2 NP_033882.1 beta-galactosidase preproprotein
Gene Ontology
  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables beta-galactosidase activity IDA
IDA: Inferred from direct assay
1914521 MGI
enables beta-galactosidase activity IMP
IMP: Inferred from mutant phenotype
31481471 MGI
enables hydrolase activity IDA
IDA: Inferred from direct assay
19710420 MGI
Cellular Component GO Annotation Evidence Reference Source
located in cytoplasm IDA
IDA: Inferred from direct assay
11551927 MGI
located in extracellular space IDA
IDA: Inferred from direct assay
19710420 MGI
located in lysosome IDA
IDA: Inferred from direct assay
29514215 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

beta-galactosidase

acid beta-galactosidase

lactase

Orthologs Information

Species Symbol Source ID
Homo sapiens Glb1 NCBI NCBI:2720