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

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

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 s...

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Bibliographic Details
Main Authors:	Männikkö, R, Stansfeld, P, Ashcroft, A, Hattersley, A, Sansom, MS, Ellard, S, Ashcroft, F
Format:	Journal article
Language:	English
Published:	2011

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