[HTML][HTML] An Arg307 to Gln polymorphism within the ATP-binding site causes loss of function of the human P2X7 receptor
The P2X 7 receptor is a ligand-gated channel that is highly expressed on mononuclear cells
of the immune system and that mediates ATP-induced apoptosis. Wide variations in the
function of the P2X receptor have been observed, explained in part by 7 loss-of-function
polymorphisms that change Glu 496 to Ala (E496A) and Ile 568 to Asn (I568N). In this study,
a third polymorphism, which substitutes an uncharged glutamine for the highly positively
charged Arg 307 (R307Q), has been found in heterozygous dosage in 12 of 420 subjects …
of the immune system and that mediates ATP-induced apoptosis. Wide variations in the
function of the P2X receptor have been observed, explained in part by 7 loss-of-function
polymorphisms that change Glu 496 to Ala (E496A) and Ile 568 to Asn (I568N). In this study,
a third polymorphism, which substitutes an uncharged glutamine for the highly positively
charged Arg 307 (R307Q), has been found in heterozygous dosage in 12 of 420 subjects …