Article
A Thr357 to Ser polymorphism in homozygous and compound heterozygous subjects causes absent or reduced P2X7 function and impairs ATP-induced mycobacterial killing by macrophages.
The Journal of biological chemistry - 27 Jan 2006
Shemon Anne N, Sluyter Ronald, Fernando Suran L, Clarke Alison L, Dao-Ung Lan-Phuong, Skarratt Kristen K, Saunders Bernadette M, Tan Khai See, Gu Ben J, Fuller Stephen J, Britton Warwick J, Petrou Steven, Wiley James S
Abstract excerpt
The P2X(7) receptor is a ligand-gated cation channel that is highly expressed on mononuclear leukocytes and that mediates ATP-induced apoptosis and killing of intracellular pathogens. There is a wide variation in P2X(7) receptor function between subjects, explained in part by four loss-of-function polymorphisms (R307Q, E496A, I568N, and a 5'-intronic splice site polymorphism), as well as rare mutations. In this...
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