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Article

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

The Journal of biological chemistry - 23 Jul 2004

Gu Ben J, Sluyter Ronald, Skarratt Kristen K, Shemon Anne N, Dao-Ung Lan-Phuong, Fuller Stephen J, Barden Julian A, Clarke Alison L, Petrou Steven, Wiley James S

Abstract excerpt

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...

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PMID: 15123679
DOI: 10.1074/jbc.M313902200

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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An Arg307 to Gln polymorphism within the ATP-binding site causes loss of function of the human P2X7 receptor.PMID 15123679Read ↗

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

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

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