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Article

A Glu-496 to Ala Polymorphism Leads to Loss of Function of the Human P2X7 Receptor

1 Apr 2001

Abstract excerpt

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)...

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Identifiers

PMID: 11150303
DOI: 10.1074/jbc.m010353200

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Glu-496 to Ala Polymorphism Leads to Loss of Function of the Human P2X7 ReceptorPMID 11150303Read ↗

An Arg307 to Gln polymorphism within the ATP-binding site causes loss of function of the human P2X7 receptor.Semantic proximity Read ↗

An Ile-568 to Asn polymorphism prevents normal trafficking and function of the human P2X7 receptor.Semantic proximity Read ↗

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.Semantic proximity Read ↗

A loss-of-function polymorphism in the human P2X7 receptor abolishes ATP-mediated killing of mycobacteria.Semantic proximity Read ↗

The P2X(7) loss-of-function Glu496Ala polymorphism affects ex vivo cytokine release and protects against the cytotoxic effects of high ATP-levels.Semantic proximity Read ↗

A His-155 to Tyr polymorphism confers gain-of-function to the human P2X7 receptor of human leukemic lymphocytes.Semantic proximity Read ↗

A P2RX7 single nucleotide polymorphism haplotype promotes exon 7 and 8 skipping and disrupts receptor function.Semantic proximity Read ↗

Significance of P2X7 receptor variants to human health and disease.Semantic proximity Read ↗

Two haplotypes of the P2X(7) receptor containing the Ala-348 to Thr polymorphism exhibit a gain-of-function effect and enhanced interleukin-1beta secretion.Semantic proximity Read ↗

R270C polymorphism leads to loss of function of the canine P2X7 receptor.Semantic proximity Read ↗

Glu496Ala polymorphism of human P2X7 receptor does not affect its electrophysiological phenotype.Semantic proximity Read ↗

Regulation of Immune Response by P2X7 ReceptorSemantic proximity Read ↗

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