| Primary Identifier | MGI:88151 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 12091 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables beta-galactosidase activity. Involved in ganglioside catabolic process; glycoprotein catabolic process; and keratan sulfate catabolic process. Located in extracellular space and lysosome. Is expressed in several structures, including alimentary system; cranium; genitourinary system; nervous system; and respiratory system. Used to study GM1 gangliosidosis. Human ortholog(s) of this gene implicated in GM1 gangliosidosis (multiple) and mucopolysaccharidosis IV (multiple). Orthologous to human GLB1 (galactosidase beta 1). PHENOTYPE: Homozygotes for a targeted null mutation exhibit progressive spastic diplegia, emaciation, and accumulation of ganglioside GM1 and asialo GM1 in brain tissue. Mutants die at 7-10 months of age. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
