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Article

Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features.

Proceedings of the National Academy of Sciences of the United States of America - 14 Dec 2004

Proks Peter, Antcliff Jennifer F, Lippiat Jon, Gloyn Anna L, Hattersley Andrew T, Ashcroft Frances M

Abstract excerpt

Inwardly rectifying potassium channels (Kir channels) control cell membrane K(+) fluxes and electrical signaling in diverse cell types. Heterozygous mutations in the human Kir6.2 gene (KCNJ11), the pore-forming subunit of the ATP-sensitive (K(ATP)) channel, cause permanent neonatal diabetes mellitus (PNDM). For some mutations, PNDM is accompanied by marked developmental delay, muscle weakness, and epilepsy...

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Source

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Identifiers

PMID: 15583126
DOI: 10.1073/pnas.0404756101
PMCID: PMC536014

Genes

KCNJ11

Provenance

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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Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features.PMID 15583126Read ↗

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