[HTML][HTML] A Glu-496 to Ala polymorphism leads to loss of function of the human P2X7 receptor

BJ Gu, W Zhang, RA Worthington, R Sluyter… - Journal of Biological …, 2001 - ASBMB
The P2X 7 receptor is a ligand-gated cation-selective channel that mediates ATP-induced
apoptosis of cells of the immune system. We and others have shown that P2X 7 is
nonfunctional both in lymphocytes and monocytes from some subjects. To study a possible
genetic basis we sequenced DNA coding for the carboxyl-terminal tail of P2X 7. In 9 of 45
normal subjects a heterozygous nucleotide substitution (1513A→ C) was found, whereas 1
subject carried the homozygous substitution that codes for glutamic acid to alanine at amino …