QuickView for CFI (gene)

Gene Symbol:

CFI Homo sapiens

Full name:

complement factor I

Synonyms:

AHUS3, ARMD13, C3BINA, C3b-INA, FI, IF, KAF, 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

Genomic Location:

Chr 4: 110881297-110942783

Description:

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 as...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus ,  Danio rerio

External Links:

Entrez Gene

Cytogenetic Map:

4q25

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