| Primary Identifier | MGI:88385 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 12628 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables complement component C3b binding activity and heparin binding activity. Acts upstream of or within with a positive effect on retina development in camera-type eye. Acts upstream of or within several processes, including complement activation; retina development in camera-type eye; and skeletal system development. Located in several cellular components, including axon; external side of plasma membrane; and neuronal cell body. Is expressed in several structures, including adrenal gland; bone; central nervous system; hemolymphoid system; and metanephros. Used to study age related macular degeneration 4; atypical hemolytic-uremic syndrome; hemolytic-uremic syndrome; and membranoproliferative glomerulonephritis. Human ortholog(s) of this gene implicated in several diseases, including atypical hemolytic-uremic syndrome; eye disease (multiple); hemolytic-uremic syndrome; lupus nephritis; and systemic lupus erythematosus. Orthologous to human CFH (complement factor H). PHENOTYPE: Homozygous mutation of this gene results in markedly reduced serum C3, abnormal renal histology, spontaneous membranoproliferative glomerulonephritis (MPGN), hematuria, proteinuria, and increased mortality at 8 months of age. [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
