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Official Full Name: complement C3b/C4b receptor 1
Also known as: KN; C3BR; C4BR; CD35
This gene is a member of the complement-activating receptor (RCA) family and is located in the "cluster RCA" region of chromosome 1. The genome is polymorphic at this locus, with allele-specific splice variants encoding distinct alloforms based on the presence/absence of long homologous repeats (lhr). The gene encodes a single-generation type I membrane glycoprotein that is present in erythrocytes, leukocytes, glomerular podocytes, and splenic follicular dendritic cells. The Knops blood group system is an antigenic system located on this protein. This protein mediates the binding of cells to complement-activating particles and immune complexes. Reduced expression of this protein and/or mutations in this gene have been associated with gallbladder cancer, angiocapillary glomerulonephritis, systemic lupus erythematosus, sarcoidosis, and Alzheimer's disease. Mutations in this gene are also associated with reduced nodulation by P. falciparum, which protects people from severe malaria.