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Article

KCNJ11 activating mutations cause both transient and permanent neonatal diabetes mellitus in Cypriot patients.

Pediatric diabetes - 1 Mar 2011

Ioannou Yiannis S, Ellard Sian, Hattersley Andrew, Skordis Nicos

Abstract excerpt

Heterozygous mutations of the KCNJ11 gene encoding the Kir6.2 subunit of the ATP-sensitive potassium channel (K(ATP) channel) of the pancreatic β-cell cause diabetes in about 30-60% of all permanent neonatal diabetes mellitus cases diagnosed before 6 months of age. The K(ATP) channel plays an essential role in the regulation of the electrical status of the membrane through which the secretion of insulin is...

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Source

Identifiers

PMID: 21352428
DOI: 10.1111/j.1399-5448.2010.00743.x

Genes

KCNJ11

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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