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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.

Abstract:

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 causes a small reduction in ATP inhibition in the heterozygous state and an increa...

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Publication status:
Published

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Authors


Männikkö, R More by this author
Stansfeld, PJ More by this author
Ashcroft, AS More by this author
Hattersley, AT More by this author
Sansom, MS More by this author
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Journal:
The Journal of physiology
Volume:
589
Issue:
Pt 13
Pages:
3071-3083
Publication date:
2011-07-05
DOI:
EISSN:
1469-7793
ISSN:
0022-3751
URN:
uuid:28f63d7a-5876-43eb-ade4-4a2a5b9b44b3
Source identifiers:
138817
Local pid:
pubs:138817

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