| Primary Identifier | MGI:2654325 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 230101 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables glucosylceramidase activity; glucosyltransferase activity; and steryl-beta-glucosidase activity. Involved in several processes, including glucosylceramide catabolic process; lipid glycosylation; and regulation of protein polymerization. Located in Golgi membrane; cytosol; and endoplasmic reticulum membrane. Is expressed in several structures, including central nervous system; dorsal root ganglion; epidermis; liver; and neural retina. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 46. Orthologous to human GBA2 (glucosylceramidase beta 2). PHENOTYPE: Mice homozygous for a knock-out allele exhibit accumulation of glucosylceramides in multiple tissues, and show impaired male fertility associated with globozoospermia, oligozoospermia, reduced sperm motility, and male germ cell apoptosis. [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
