Entrez gene ID | | 966 |
Official gene symbol | | CD59 |
Full name | | CD59 molecule, complement regulatory protein |
Aliases | | ,16.3A5,1F5,EJ16,EJ30,EL32,FLJ38134,FLJ92039,G344,HRF-20,HRF20,MAC-IP,MACIF,MEM43,MGC2354,MIC11,MIN1,MIN2,MIN3,MIRL,MSK21,p18-20, |
Gene summary | | This gene encodes a cell surface glycoprotein that regulates complement-mediated cell lysis, and it is involved in lymphocyte signal transduction. This protein is a potent inhibitor of the complement membrane attack complex, whereby it binds complement C8 and/or C9 during the assembly of this complex, thereby inhibiting the incorporation of multiple copies of C9 into the complex, which is necessary for osmolytic pore formation. This protein also plays a role in signal transduction pathways in the activation of T cells. Mutations in this gene cause CD59 deficiency, a disease resulting in hemolytic anemia and thrombosis, and which causes cerebral infarction. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq] |
Location | | Chromosome: 11 Locus: 11p13 |
Gene position | | 33758025 - 33724556 Map Viewer |
Gene orientation | | minus |
Gene size | | 33470 bp |
Gene sequence |
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OMIM ID | | 107271 |
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