[HTML][HTML] A Thr357 to Ser polymorphism in homozygous and compound heterozygous subjects causes absent or reduced P2X7 function and impairs ATP-induced …
AN Shemon, R Sluyter, SL Fernando, AL Clarke… - Journal of Biological …, 2006 - ASBMB
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 study, we
report the allele frequencies of 11 non-synonymous P2X 7 polymorphisms and describe a …
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 study, we
report the allele frequencies of 11 non-synonymous P2X 7 polymorphisms and describe a …