CFHR1 Chromosome 1
Complement factor H related 1
Upload your DNA to see your personal genotypes for variants in CFHR1.
What This Gene Does
This gene encodes a secreted protein belonging to the complement factor H protein family. It binds to Pseudomonas aeruginosa elongation factor Tuf together with plasminogen, which is proteolytically activated. It is proposed that Tuf acts as a virulence factor by acquiring host proteins to the pathogen surface, controlling complement, and facilitating tissue invasion. Mutations in this gene are associated with an increased risk of atypical hemolytic-uremic syndrome. [provided by RefSeq, Oct 2009]
Gene Info
Gene Group
"Sushi domain containing|Complement system regulators and receptors"
Locus Type
gene with protein product
Location
1q31.3
Ensembl
ENSG00000244414
Associated Conditions (8)
Chronic kidney disease
Hepatocellular carcinoma
Colon adenocarcinoma
Hemolytic uremic syndrome
atypical
susceptibility to
1
Age related macular degeneration 1
Key Variants
RS111851524
Conflicting classifications of pathogenicity
Health Risk
RS113307454
Conflicting classifications of pathogenicity
Health Risk
RS140799744
Conflicting classifications of pathogenicity
Chronic kidney disease, Hepatocellular carcinoma, Colon adenocarcinoma
Health Risk
RS145057542
Conflicting classifications of pathogenicity
Health Risk
RS145063408
Conflicting classifications of pathogenicity
Health Risk
RS200832275
Conflicting classifications of pathogenicity
Hemolytic uremic syndrome, atypical, susceptibility to
Health Risk
RS201995028
Conflicting classifications of pathogenicity
Health Risk
RS769938205
Conflicting classifications of pathogenicity
Age related macular degeneration 1, Hemolytic uremic syndrome, atypical
Health Risk
RS16840561
Likely pathogenic
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS111851524 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS113307454 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS140799744 | Health Risk | Conflicting classifications of pathogenicity | Chronic kidney disease, Hepatocellular carcinoma, Colon adenocarcinoma |
| RS145057542 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS145063408 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200832275 | Health Risk | Conflicting classifications of pathogenicity | Hemolytic uremic syndrome, atypical, susceptibility to |
| RS201995028 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS769938205 | Health Risk | Conflicting classifications of pathogenicity | Age related macular degeneration 1, Hemolytic uremic syndrome, atypical |
| RS16840561 | Health Risk | Likely pathogenic | — |