Gene: CFI

Alternate names for this Gene: AHUS3|ARMD13|C3BINA|C3b-INA|FI|IF|KAF

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 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.

Gene is located in Chromosome: 4

Location in Chromosome : 4q25

Description of this Gene: complement factor I

Type of Gene: protein-coding

rs10033900 in CFI gene and Age related macular degeneration PMID 26691988 2016 A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

PMID 20385826 2010 Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).

PMID 22705344 2012 Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.

PMID 21665990 2011 Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.

rs10033900 in CFI gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs121964912 in CFI gene and Complement Factor I (C3 inactivator) deficiency PMID 12562389 2003 Molecular characterization of homozygous hereditary factor I deficiency.

PMID 17018561 2007 Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome.

PMID 8613545 1996 The molecular basis of hereditary complement factor I deficiency.

PMID 25988862 2015 Novel CFI mutation in a patient with leukocytoclastic vasculitis may redefine the clinical spectrum of Complement Factor I deficiency.

rs7439493 in CFI gene and Complement factor I measurement PMID 28240269 2017 Connecting genetic risk to disease end points through the human blood plasma proteome.

rs10033900 in CFI gene and Exudative age-related macular degeneration PMID 26691988 2016 A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

PMID 22705344 2012 Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.

rs10033900 in CFI gene and Geographic Atrophy PMID 26691988 2016 A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

rs121964914 in CFI gene and HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 PMID 19821824 2010 Clinical practice guidelines for the management of atypical haemolytic uraemic syndrome in the United Kingdom.

PMID 15173250 2004 Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome.

PMID 20513133 2010 Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.

PMID 19846853 2009 Atypical hemolytic-uremic syndrome.

PMID 16621965 2006 Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome.

PMID 17106690 2007 A missense mutation in factor I (IF) predisposes to atypical haemolytic uraemic syndrome.

PMID 22710145 2012 Complement factor I deficiency: a not so rare immune defect: characterization of new mutations and the first large gene deletion.

rs1553915717 in CFI gene and Leukocytoclastic vasculitis PMID 25988862 2015 Novel CFI mutation in a patient with leukocytoclastic vasculitis may redefine the clinical spectrum of Complement Factor I deficiency.

rs141853578 in CFI gene and MACULAR DEGENERATION, AGE-RELATED, 13 PMID 23685748 2013 A functional variant in the CFI gene confers a high risk of age-related macular degeneration.

rs1553915717 in CFI gene and Vasculitis, Leukocytoclastic, Cutaneous PMID 25988862 2015 Novel CFI mutation in a patient with leukocytoclastic vasculitis may redefine the clinical spectrum of Complement Factor I deficiency.

rs10033900 in CFI gene and exudative macular degeneration PMID 22705344 2012 Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.

PMID 26691988 2016 A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.