基因名:
CR1
产品别名:
C3BR; C4BR; CD35; KN; CR1; complement C3b/C4b receptor 1 (Knops blood group); complement C3b/C4b receptor 1 (Knops blood group); complement receptor type 1; C3-binding protein; C3b/C4b receptor; CD35 antigen; Knops blood group antigen; complement component (3b/4b) receptor 1 (Knops blood group); complement receptor 1; Ⅰ型补体受体/C3b/C4b受体; Ⅰ型补体受体(C3b/C4b受体); 红细胞补体受体1(CR1);
背景信息:
This gene is a member of the receptors of complement activation (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 different isoforms, based on the presence/absence of long homologous repeats (LHRs). The gene encodes a monomeric single-pass type I membrane glycoprotein found on erythrocytes, leukocytes, glomerular podocytes, and splenic follicular dendritic cells. The Knops blood group system is a system of antigens located on this protein. The protein mediates cellular binding to particles and immune complexes that have activated complement. Decreases in expression of this protein and/or mutations in this gene have been associated with gallbladder carcinomas, mesangiocapillary glomerulonephritis, systemic lupus erythematosus, sarcoidosis and Alzheimer's disease. Mutations in this gene have also been associated with a reduction in Plasmodium falciparum rosetting, conferring protection against severe malaria. [provided by RefSeq, May 2020]