CFI

Name

complement factor I

Type

protein-coding

Position

109,731,008–109,802,195 (−)

Aliases

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

Ensembl

ENSG00000205403

RefSeq RNA

NM_000204.5, NM_001318057.2, NM_001331035.2, NM_001375278.1, NM_001375279.1

RefSeq protein

NP_000195.3, NP_001304986.2, NP_001317964.1, NP_001362207.1, NP_001362208.1

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].

via MyGene.info

Gene · Ensembl

complement factor I

Symbol

CFI

Biotype

Protein coding

Organism

Homo sapiens

Location

4:109,730,868-109,802,200

Strand

Reverse (−)

Assembly

GRCh38

Wikidata facts

via Wikidata · CC0