| Background | 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, Jul 2008] |
| Synonyms | MACIF Antibody , 1F5 Antibody , MIN2 Antibody , MIN3 Antibody , HRF-20 Antibody , 16.3A5 Antibody , MSK21 Antibody , EJ16 Antibody , HRF20 Antibody , EL32 Antibody , CD59 molecule, complement regulatory protein Antibody , G344 Antibody , MIC11 Antibody , MIN1 Antibody , MEM43 Antibody , MAC-IP Antibody , MIRL Antibody , EJ30 Antibody , p18-20 Antibody |