| Primary Identifier | MGI:88227 | Organism | mouse, laboratory |
| Chromosome | 17 | NCBI Gene Number | 12266 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Predicted to enable G protein-coupled receptor binding activity; antigen binding activity; and lipid binding activity. Involved in several processes, including nervous system development; positive regulation of endocytosis; and positive regulation of immune response. Acts upstream of or within several processes, including complement-dependent cytotoxicity; oviduct epithelium development; and positive regulation of immune response. Located in cell surface. Part of protein-containing complex. Is active in extracellular region. Is expressed in several structures, including adipose tissue; cerebral cortex; extraembryonic component; hemolymphoid system; and liver. Used to study complement component 3 deficiency and membranoproliferative glomerulonephritis. Human ortholog(s) of this gene implicated in several diseases, including complement deficiency (multiple); macular degeneration (multiple); paroxysmal nocturnal hemoglobinuria; sickle cell anemia; and silicosis. Orthologous to human C3 (complement C3). PHENOTYPE: Homozygous mutant mice exhibit abnormal immune responses, including increased mortality upon bacterial infection and decreased inflammatory response. Homozygosity for a constitutively or hyperactive allele affects complement system dysregulation and leads to kidney damage and premature death. [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
