CFHR1
Function
Involved in complement regulation. The dimerized forms have avidity for tissue-bound complement fragments and efficiently compete with the physiological complement inhibitor CFH. Can associate with lipoproteins and may play a role in lipid metabolism.
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).
Post-translational modifications
N-glycosylated. Two forms are observed; one with a single side chain and the other with two.
Tissue Specificity
Expressed by the liver and secreted in plasma.
Cellular localization
- Secreted
Alternative names
CFHL, CFHL1, CFHL1P, CFHR1P, FHR1, HFL1, HFL2, CFHR1, Complement factor H-related protein 1, FHR-1, H factor-like protein 1, H36, FHL-1, H-factor-like 1