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Functional analysis of two Kir6.2 (KCNJ11) mutations, K170T and E322K, causing neonatal diabetes.

Diabetes, obesity & metabolism - 1 Nov 2007

Tarasov A I, Girard C A, Larkin B, Tammaro P, Flanagan S E, Ellard S, Ashcroft F M

Abstract excerpt

Heterozygous activating mutations in Kir6.2 (KCNJ11), the pore-forming subunit of the adenosine triphosphate (ATP)-sensitive potassium (K(ATP)) channel, are a common cause of neonatal diabetes (ND). We assessed the functional effects of two Kir6.2 mutations associated with ND: K170T and E322K. K(ATP) channels were expressed in Xenopus oocytes, and the heterozygous state was simulated by coexpression of wild-type...

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Identifiers

PMID: 17919178
DOI: 10.1111/j.1463-1326.2007.00777.x

Genes

KCNJ11

Variants

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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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