CFHR3 Chromosome 1
Complement factor H related 3
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What This Gene Does
The protein encoded by this gene is a secreted protein, which belongs to the complement factor H-related protein family. It binds to heparin, and may be involved in complement regulation. Mutations in this gene are associated with decreased risk of age-related macular degeneration, and with an increased risk of atypical hemolytic-uremic syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Gene Info
Gene Group
"Sushi domain containing|Complement system regulators and receptors"
Locus Type
gene with protein product
Location
1q31.3
Ensembl
ENSG00000116785
Associated Conditions (3)
Cholangiocarcinoma
Malignant tumor of urinary bladder
Hepatocellular carcinoma
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138839071 | Health Risk | Conflicting classifications of pathogenicity | Cholangiocarcinoma, Malignant tumor of urinary bladder, Hepatocellular carcinoma |
| RS377742193 | Health Risk | Conflicting classifications of pathogenicity | — |