| Primary Identifier | MGI:105937 | Organism | mouse, laboratory |
| Chromosome | 3 | NCBI Gene Number | 12630 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable metal ion binding activity and serine-type endopeptidase activity. Involved in complement activation. Located in extracellular space. Is expressed in several structures, including endocrine gland; eye; genitourinary system; gut; and liver and biliary system. Used to study glomerulonephritis. Human ortholog(s) of this gene implicated in Kuhnt-Junius degeneration; age related macular degeneration 13; atypical hemolytic-uremic syndrome; complement factor I deficiency; and macular degeneration. Orthologous to human CFI (complement factor I). PHENOTYPE: Homozygous null mice display uncontrolled alternative pathway activation as shown by reduced complement C3, factor B, and factor H levels, but do not develop C3 deposition along the glomerular basement membrane or membranoproliferative glomerulonephritistype II. Plasma C3 circulates as C3b. [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
