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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 wer...

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Share to Diabetes Mellitus
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Potassium Channels, Inwardly Rectifying

Share to Receptors, Drug

Share to Sulfonylurea Receptors

Share to Tryptophan

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Source

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Identifiers

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

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21540348-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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