CFI, complement factor I

CFI, complement factor I

• 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]

• Gene Synonyms (complement factor I, C3B/C4B inactivator, C3b-inactivator, Konglutinogen-activating factor, complement component I, complement control protein factor I, complement factor I heavy chain, light chain of factor I, AHUS3, ARMD13, C3BINA, C3b-INA, FI, IF, KAF,)
• NCBI Gene ID: 3426
• Species: Homo sapiens (Human)
• UNIPROT ID#>>A8K3L0
  UNIPROT ID#>>Q8WW88
  UNIPROT ID#>>B4DRF2
  UNIPROT ID#>>G3XAM2
  UNIPROT ID#>>P05156
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

complement factor I interacts with:

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