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Article

A conserved tryptophan at the membrane-water interface acts as a gatekeeper for Kir6.2/SUR1 channels and causes neonatal diabetes when mutated.

The Journal of physiology - 1 Jul 2011

Männikkö Roope, Stansfeld Phillip J, Ashcroft Alexandra S, Hattersley Andrew T, Sansom Mark S P, Ellard Sian, Ashcroft Frances M

Abstract excerpt

We identified a novel heterozygous mutation, W68R, in the Kir6.2 subunit of the ATP-sensitive potassium (KATP) channel, in a patient with transient neonatal diabetes. This tryptophan is absolutely conserved in mammalian Kir channels. The functional effects of mutations at residue 68 of Kir6.2 were studied by heterologous expression in Xenopus oocytes, and by homology modelling. We found the Kir6.2-W68R mutation...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Infant, Newborn, Diseases

Share to Potassium Channels, Inwardly Rectifying

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Share to Sulfonylurea Receptors

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Source

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Identifiers

PMID: 21540348
DOI: 10.1113/jphysiol.2011.209700
PMCID: PMC3145925

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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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A conserved tryptophan at the membrane-water interface acts as a gatekeeper for Kir6.2/SUR1 channels and causes neonatal diabetes when mutated.PMID 21540348Read ↗

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