| Gene Symbol | CR1 |
| Entrez Gene ID | 1378 |
| Full Name | complement C3b/C4b receptor 1 (Knops blood group) |
| Synonyms | C3BR,C4BR,CD35,KN |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | 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 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 its gene have been associated with gallbladder carcinomas, mesangiocapillary glomerulonephritis, systemic lupus erythematosus and sarcoidosis. Mutations in this gene have also been associated with a reduction in Plasmodium falciparum rosetting, conferring protection against severe malaria. Alternate allele-specific splice variants, encoding different isoforms, have been characterized. Additional allele specific isoforms, including a secreted form, have been described but have not been fully characterized. [provided by RefSeq, Jul 2008]. |
| Disorder MIM: | |
| Disorder Html: | CR1 deficiency (1); {?SLE susceptibility} (1); [Blood group, Knops system], 607486 (3); {Malaria, severe, resistance to}, 611162 (3) |
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