Gene Symbol | CD59 |
Entrez Gene ID | 966 |
Full Name | CD59 molecule (CD59 blood group) |
Synonyms | 16.3A5,1F5,EJ16,EJ30,EL32,G344,HRF-20,HRF20,MAC-IP,MACIF,MEM43,MIC11,MIN1,MIN2,MIN3,MIRL,MSK21,p18-20 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300 (3) |