CFI Chromosome 4
Complement factor I
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What This Gene Does
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 Info
Gene Group
"Scavenger receptor cysteine rich domain containing|Complement system regulators and receptors"
Locus Type
gene with protein product
Location
4q25
Ensembl
ENSG00000205403
Associated Conditions (16)
Factor I deficiency
CFI-related disorder
Atypical hemolytic-uremic syndrome with I factor anomaly
Age related macular degeneration 13
Atypical hemolytic-uremic syndrome
Macular degeneration
age-related
13
susceptibility to
Kidney failure
Peroxisome biogenesis disorder 4A (Zellweger)
Inborn genetic diseases
Thrombotic microangiopathy
Thymoma
Complement-mediated glomerular disease
Colon adenocarcinoma
Key Variants
RS121964912
Conflicting classifications of pathogenicity
Factor I deficiency, CFI-related disorder, Factor I deficiency
Health Risk
RS121964914
Conflicting classifications of pathogenicity
Atypical hemolytic-uremic syndrome with I factor anomaly, CFI-related disorder, Atypical hemolytic-uremic syndrome with I factor anomaly
Health Risk
RS121964918
Conflicting classifications of pathogenicity
Atypical hemolytic-uremic syndrome with I factor anomaly, CFI-related disorder, Atypical hemolytic-uremic syndrome with I factor anomaly
Health Risk
RS1248287792
Conflicting classifications of pathogenicity
CFI-related disorder, Age related macular degeneration 13, Factor I deficiency
Health Risk
RS1268486835
Conflicting classifications of pathogenicity
Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome
Health Risk
RS1312234258
Conflicting classifications of pathogenicity
Factor I deficiency, Age related macular degeneration 13, Atypical hemolytic-uremic syndrome with I factor anomaly
Health Risk
RS138346388
Conflicting classifications of pathogenicity
Atypical hemolytic-uremic syndrome with I factor anomaly, Atypical hemolytic-uremic syndrome, CFI-related disorder
Health Risk
RS141853578
Conflicting classifications of pathogenicity
Macular degeneration, age-related, 13
Health Risk
RS143366614
Conflicting classifications of pathogenicity
Atypical hemolytic-uremic syndrome with I factor anomaly, CFI-related disorder, Atypical hemolytic-uremic syndrome with I factor anomaly
Health Risk
RS1436775364
Conflicting classifications of pathogenicity
CFI-related disorder, CFI-related disorder
Health Risk
RS144082872
Conflicting classifications of pathogenicity
Atypical hemolytic-uremic syndrome with I factor anomaly, Peroxisome biogenesis disorder 4A (Zellweger), Age related macular degeneration 13
Health Risk
RS146444258
Conflicting classifications of pathogenicity
Atypical hemolytic-uremic syndrome with I factor anomaly, Age related macular degeneration 13, Factor I deficiency
Health Risk
All Variants (104)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS773085612 | Health Risk | Conflicting classifications of pathogenicity | Atypical hemolytic-uremic syndrome, Age related macular degeneration 13, Atypical hemolytic-uremic syndrome with I factor anomaly |
| RS776132010 | Health Risk | Conflicting classifications of pathogenicity | Atypical hemolytic-uremic syndrome with I factor anomaly, Atypical hemolytic-uremic syndrome with I factor anomaly |
| RS778871974 | Health Risk | Conflicting classifications of pathogenicity | CFI-related disorder, CFI-related disorder |
| RS989210294 | Health Risk | Conflicting classifications of pathogenicity | Atypical hemolytic-uremic syndrome, Factor I deficiency, Atypical hemolytic-uremic syndrome |
| RS1360382612 | Health Risk | Likely pathogenic | Factor I deficiency, Factor I deficiency |
| RS1425827135 | Health Risk | Likely pathogenic | Atypical hemolytic-uremic syndrome with I factor anomaly, Factor I deficiency, Age related macular degeneration 13 |
| RS1579173999 | Health Risk | Likely pathogenic | Atypical hemolytic-uremic syndrome with I factor anomaly, Atypical hemolytic-uremic syndrome with I factor anomaly |
| RS1723935867 | Health Risk | Likely pathogenic | CFI-related disorder, CFI-related disorder |
| RS1727514792 | Health Risk | Likely pathogenic | — |
| RS2126178088 | Health Risk | Likely pathogenic | Atypical hemolytic-uremic syndrome with I factor anomaly, Factor I deficiency, Age related macular degeneration 13 |
| RS2545375580 | Health Risk | Likely pathogenic | — |
| RS750850949 | Health Risk | Likely pathogenic | Atypical hemolytic-uremic syndrome with I factor anomaly, Atypical hemolytic-uremic syndrome with I factor anomaly |
| RS774728696 | Health Risk | Likely pathogenic | — |
| RS781627334 | Health Risk | Likely pathogenic | — |
| RS1352826089 | Health Risk | Likely pathogenic/Likely pathogenic, low penetrance | CFI-related disorder, CFI-related disorder |
| RS1560546604 | Health Risk | Likely pathogenic/Likely pathogenic, low penetrance | CFI-related disorder, CFI-related disorder |
| RS1303038263 | Health Risk | Likely pathogenic/Pathogenic, low penetrance | Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome |
| RS752671716 | Health Risk | Likely pathogenic/Pathogenic, low penetrance | Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly, Age related macular degeneration 13 |
| RS121964915 | Health Risk | Pathogenic | Atypical hemolytic-uremic syndrome with I factor anomaly, CFI-related disorder, Atypical hemolytic-uremic syndrome with I factor anomaly |
| RS121964916 | Health Risk | Pathogenic | Factor I deficiency, Factor I deficiency |
| RS1283565272 | Health Risk | Pathogenic | — |
| RS1339444612 | Health Risk | Pathogenic | CFI-related disorder, CFI-related disorder |
| RS1400738748 | Health Risk | Pathogenic | — |
| RS1478645822 | Health Risk | Pathogenic | CFI-related disorder, CFI-related disorder |
| RS200419722 | Health Risk | Pathogenic | Atypical hemolytic-uremic syndrome with I factor anomaly, Age related macular degeneration 13, Factor I deficiency |
| RS2126190954 | Health Risk | Pathogenic | — |
| RS2126214430 | Health Risk | Pathogenic | Atypical hemolytic-uremic syndrome with I factor anomaly, Factor I deficiency, Age related macular degeneration 13 |
| RS2126214475 | Health Risk | Pathogenic | — |
| RS2126224367 | Health Risk | Pathogenic | — |
| RS2126224371 | Health Risk | Pathogenic | Factor I deficiency, Factor I deficiency |
| RS2545377389 | Health Risk | Pathogenic | Atypical hemolytic-uremic syndrome with I factor anomaly, Atypical hemolytic-uremic syndrome with I factor anomaly |
| RS2545456303 | Health Risk | Pathogenic | — |
| RS2545456988 | Health Risk | Pathogenic | — |
| RS2545457223 | Health Risk | Pathogenic | — |
| RS2545457659 | Health Risk | Pathogenic | Atypical hemolytic-uremic syndrome with I factor anomaly, Atypical hemolytic-uremic syndrome with I factor anomaly |
| RS2545548503 | Health Risk | Pathogenic | — |
| RS749516565 | Health Risk | Pathogenic | — |
| RS758049059 | Health Risk | Pathogenic | Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly, Age related macular degeneration 13 |
| RS760688154 | Health Risk | Pathogenic | CFI-related disorder, CFI-related disorder |
| RS768411190 | Health Risk | Pathogenic | — |
| RS778466816 | Health Risk | Pathogenic | — |
| RS121964913 | Health Risk | Pathogenic/Likely pathogenic | Atypical hemolytic-uremic syndrome with I factor anomaly, CFI-related disorder, Age related macular degeneration 13 |
| RS1445308792 | Health Risk | Pathogenic/Likely pathogenic | CFI-related disorder, CFI-related disorder |
| RS199688124 | Health Risk | Pathogenic/Likely pathogenic | Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly, Age related macular degeneration 13 |
| RS368555424 | Health Risk | Pathogenic/Likely pathogenic | Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome with I factor anomaly, Age related macular degeneration 13 |
| RS368615806 | Health Risk | Pathogenic/Likely pathogenic | Atypical hemolytic-uremic syndrome with I factor anomaly, Age related macular degeneration 13, Factor I deficiency |
| RS752767269 | Health Risk | Pathogenic/Likely pathogenic | Factor I deficiency, CFI-related disorder, Factor I deficiency |
| RS757053954 | Health Risk | Pathogenic/Likely pathogenic | Age related macular degeneration 13, Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly |
| RS2545439344 | Health Risk | Pathogenic/Likely pathogenic, low penetrance | CFI-related disorder, CFI-related disorder |
| RS769721080 | Health Risk | Pathogenic/Likely pathogenic, low penetrance | Factor I deficiency, Factor I deficiency |