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Enzyme-linked Immunoabsorbent Assay

Entrez GeneID

Gene Name

CFI

Gene Alias

C3B-INA, FI, IF, KAF

Gene Description

complement factor I

Omim ID

Gene Ontology

Gene Summary

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

Other Designations

C3B/C4B inactivator|C3b-inactivator|I factor (complement)|Konglutinogen-activating factor|complement component I|complement control protein factor I|light chain of factor I