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Article

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

The Journal of biological chemistry - 9 May 2003

Wiley James S, Dao-Ung Lan-Phuong, Li Changping, Shemon Anne N, Gu Ben J, Smart Megan L, Fuller Stephen J, Barden Julian A, Petrou Steven, Sluyter Ronald

Abstract excerpt

The P2X(7) receptor is a ligand-gated channel that is highly expressed on mononuclear cells and that mediates ATP-induced apoptosis of these cells. Wide variations in the function of the P2X(7) receptor have been observed, in part because of a loss-of-function polymorphism that changes Glu-496 to Ala without affecting the surface expression of the receptor on lymphocytes. In this study a second polymorphism...

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Identifiers

PMID: 12586825
DOI: 10.1074/jbc.M212759200

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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.

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An Ile-568 to Asn polymorphism prevents normal trafficking and function of the human P2X7 receptor.PMID 12586825Read ↗

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

A Glu-496 to Ala Polymorphism Leads to Loss of Function of the Human P2X7 ReceptorSemantic 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 His-155 to Tyr polymorphism confers gain-of-function to the human P2X7 receptor of human leukemic lymphocytes.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 ↗

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

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

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

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

Single nucleotide polymorphisms that were identified in affective mood disorders affect ATP-activated P2X7 receptor functions.Semantic proximity Read ↗

Mutation of putative N-linked glycosylation sites on the human nucleotide receptor P2X7 reveals a key residue important for receptor function.Semantic proximity Read ↗

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