| Primary Identifier | MGI:97783 | Organism | mouse, laboratory |
| Chromosome | 10 | NCBI Gene Number | 19156 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables G protein-coupled receptor binding activity; identical protein binding activity; and lipid antigen binding activity. Involved in adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway; cellular response to reactive oxygen species; and positive regulation of MAPK cascade. Acts upstream of or within with a negative effect on gene expression. Acts upstream of or within several processes, including glycosylceramide metabolic process; prostate gland development; and protein transport. Located in aggresome; extracellular region; and lysosome. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; hemolymphoid system; and sensory organ. Used to study Gaucher's disease; Krabbe disease; combined saposin deficiency; and metachromatic leukodystrophy. Human ortholog(s) of this gene implicated in atypical Gaucher's disease due to saposin c deficiency; combined saposin deficiency; and late onset Parkinson's disease. Orthologous to human PSAP (prosaposin). PHENOTYPE: Homozygotes for a targeted null mutation die either neonatally or around 7 weeks. At 30 days, mutants show hypomyelination, PAS-positive material in the nervous system, and accumulation of ceramides in brain, liver, and kidney. [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
