| Primary Identifier | MGI:95665 | Organism | mouse, laboratory |
| Chromosome | 3 | NCBI Gene Number | 14466 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables glucosyltransferase activity; hydrolase activity, hydrolyzing O-glycosyl compounds; and signaling receptor binding activity. Involved in several processes, including glucosylceramide catabolic process; lipid glycosylation; and regulation of TOR signaling. Acts upstream of or within with a positive effect on hematopoietic stem cell proliferation. Acts upstream of or within several processes, including macroautophagy; nervous system development; and regulation of protein metabolic process. Located in several cellular components, including endoplasmic reticulum; lysosome; and trans-Golgi network. Is expressed in several structures, including alimentary system; central nervous system; integumental system; reproductive system; and sensory organ. Used to study Gaucher's disease; Gaucher's disease type I; and Gaucher's disease type II. Human ortholog(s) of this gene implicated in Gaucher's disease (multiple); Lewy body dementia; Parkinson's disease (multiple); and Parkinsonism. Orthologous to human GBA1 (glucosylceramidase beta 1). PHENOTYPE: Mutations in this locus variably lower enzyme activity and result in accumulated glucocerebroside in reticuloendotehelial cell lysosomes and glucosylceramide in brain, liver and skin. Severe mutants die perinatally with compromised epidermal permeability. [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
