CFH

Complement Factor H (CFH) composed of 20 repetitive units of 60 amino acids, named short consensus repeats (SCR) or complement control protein modules (CCP), arranged in a continuous fashion. CFH is amongst the most abundant complement components in human blood, where the liver is the major source of CFH protein in vivo. The CFH molecule includes different interaction sites for C3b and polyanions which delineate distinct functional domains at the N- and C-termini. The C3b binding site in SCR1-4 is the only site essential for the factor I co-factor activity of factor H. Similarly, the C3b/polyanions-binding site located within SCR19-20 is the most important site for preventing alternative pathway activation on host cells. Mutations in the CFH gene are associated with severe and diverse diseases including the rare renal disorders hemolytic uremic syndrome (HUS) and membranoproliferative (MPGN) also termed dense deposit disease (DDD), as well as the more frequent retinal disease age related macular degeneration (AMD).