Aliases for CFI Gene
External Ids for CFI Gene
Previous Symbols for CFI Gene
This gene encodes a serine proteinase that is essential for regulating the complement cascade. The encoded preproprotein is cleaved to produce both heavy and light chains, which are linked by disulfide bonds to form a heterodimeric glycoprotein. This heterodimer can cleave and inactivate the complement components C4b and C3b, and it prevents the assembly of the C3 and C5 convertase enzymes. Defects in this gene cause complement factor I deficiency, an autosomal recessive disease associated with a susceptibility to pyogenic infections. Mutations in this gene have been associated with a predisposition to atypical hemolytic uraemic syndrome, a disease characterized by acute renal failure, microangiopathic hemolytic anemia and thrombocytopenia. Primary glomerulonephritis with immmune deposits is another condition associated with mutation of this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for CFI Gene
CFI (Complement Factor I) is a Protein Coding gene. Diseases associated with CFI include macular degeneration, age-related, 13 and hemolytic uremic syndrome, atypical 3. Among its related pathways are Complement and coagulation cascades and Staphylococcus aureus infection. GO annotations related to this gene include serine-type endopeptidase activity and scavenger receptor activity. An important paralog of this gene is CORIN.
UniProtKB/Swiss-Prot for CFI Gene
Responsible for cleaving the alpha-chains of C4b and C3b in the presence of the cofactors C4-binding protein and factor H respectively