Aliases for CFI Gene
External Ids for CFI Gene
Previous HGNC Symbols for CFI Gene
Previous GeneCards Identifiers 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 uremic syndrome, a disease characterized by acute renal failure, microangiopathic hemolytic anemia and thrombocytopenia. Primary glomerulonephritis with immune deposits and age-related macular degeneration are other conditions associated with mutations of this gene. [provided by RefSeq, Dec 2015]
GeneCards Summary for CFI Gene
CFI (Complement Factor I) is a Protein Coding gene. Diseases associated with CFI include Complement Factor I Deficiency and Hemolytic Uremic Syndrome, Atypical 3. Among its related pathways are Creation of C4 and C2 activators and Complement and coagulation cascades. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity and scavenger receptor activity. An important paralog of this gene is OVCH1.
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.