CFHR3
Function
Might be involved in complement regulation.
Involvement in disease
Hemolytic uremic syndrome, atypical, 1
AHUS1
An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease.
None
Disease susceptibility is associated with variants affecting the gene represented in this entry. A deletion encompassing CFHR1 and CFHR3 is associated with an increased risk of atypical hemolytic uremic syndrome, likely due to a defective regulation of complement activation (PubMed:17367211). Some patients carrying the deletion have serum anti-CFH autoantibodies (PubMed:18006700).
Tissue Specificity
Expressed by the liver and secreted in plasma.
Cellular localization
- Secreted
Alternative names
CFHL3, FHR3, CFHR3, Complement factor H-related protein 3, FHR-3, DOWN16, H factor-like protein 3