CD59 Glycoprotein (CD59) Human Recombinant Protein

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]

CD59: Potent inhibitor of the complement membrane attack complex (MAC) action. Acts by binding to the C8 and/or C9 complements of the assembling MAC, thereby preventing incorporation of the multiple copies of C9 required for complete formation of the osmolytic pore. This inhibitor appears to be species-specific. Involved in signal transduction for T-cell activation complexed to a protein tyrosine kinase. Defects in CD59 are the cause of CD59 deficiency (CD59D).

Protein type: Membrane protein, GPI anchor

Chromosomal Location of Human Ortholog: 11p13

Cellular Component: anchored to external side of plasma membrane; cell surface; compact myelin; endoplasmic reticulum membrane; ER-Golgi intermediate compartment membrane; extracellular space; focal adhesion; Golgi membrane; membrane; plasma membrane; sarcolemma; vesicle

Molecular Function: complement binding; protein binding

Biological Process: blood coagulation; cell surface receptor linked signal transduction; cellular protein metabolic process; COPII coating of Golgi vesicle; ER to Golgi vesicle-mediated transport; innate immune response; negative regulation of activation of membrane attack complex; negative regulation of apoptosis; positive regulation of T cell proliferation; post-translational protein modification; protein amino acid N-linked glycosylation via asparagine; regulation of complement activation

Disease: Hemolytic Anemia, Cd59-mediated, With Or Without Immune-mediated Polyneuropathy