Synonyms: 16.3A5,1F5,1F5 antigen,20 kDa homologous restriction factor,CD 59,CD_antigen=CD59,CD59,CD59 antigen,CD59 antigen complement regulatory protein ,CD59 antigen p18 20,CD59 antigen p18-20 (antigen identified by monoclonal antibodies 16.3A5,EJ16,EJ30,EL32 and G344),CD59 glycoprotein,CD59 Molecule,CD59 Molecule complement regulatory protein,CD59,Cd59a,Complement regulatory protein,EJ16,EJ30,EL32,FLJ38134,FLJ92039,G344,HRF 20,HRF-20,HRF20,Human leukocyte antigen MIC11,Ly 6 like protein,Lymphocytic antigen CD59/MEM43,MAC inhibitory protein,MAC IP,MAC-inhibitory protein,MAC-IP,MACIF,MACIP,MEM43,MEM43 antigen,Membrane attack complex (MAC) inhibition factor,Membrane attack complex inhibition factor,Membrane inhibitor of reactive lysis,MGC2354,MIC11,MIN1,MIN2,MIN3,MIRL,MSK21,p18 20,Protectin,Surface antigen recognized by monoclonal 16.3A5,T cell activating protein
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.