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Article

A novel KCNJ11 mutation associated with congenital hyperinsulinism reduces the intrinsic open probability of beta-cell ATP-sensitive potassium channels.

The Journal of biological chemistry - 3 Feb 2006

Lin Yu-Wen, MacMullen Courtney, Ganguly Arupa, Stanley Charles A, Shyng Show-Ling

Abstract excerpt

The beta-cell ATP-sensitive potassium (KATP) channel controls insulin secretion by linking glucose metabolism to membrane excitability. Loss of KATP channel function due to mutations in ABCC8 or KCNJ11, genes that encode the sulfonylurea receptor 1 or the inward rectifier Kir6.2 subunit of the channel, is a major cause of congenital hyperinsulinism. Here, we report identification of a novel KCNJ11 mutation...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Phosphatidylinositol 4,5-Diphosphate

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Share to Potassium Channels

Share to Potassium Channels, Inwardly Rectifying

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Source

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Identifiers

PMID: 16332676
DOI: 10.1074/jbc.M511875200
PMCID: PMC1479853

Genes

KCNJ11
ABCC8

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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A novel KCNJ11 mutation associated with congenital hyperinsulinism reduces the intrinsic open probability of beta-cell ATP-sensitive potassium channels.PMID 16332676Read ↗

A loss-of-function mutation in KCNJ11 causing sulfonylurea-sensitive diabetes in early adult life.Semantic proximity Read ↗

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

Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinismSemantic proximity Read ↗

Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects.Semantic proximity Read ↗

Functional analysis of six Kir6.2 (KCNJ11) mutations causing neonatal diabetes.Semantic proximity Read ↗

Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism.Semantic proximity Read ↗

Compound heterozygous mutations in the SUR1 (ABCC 8) subunit of pancreatic K(ATP) channels cause neonatal diabetes by perturbing the coupling between Kir6.2 and SUR1 subunits.Semantic proximity Read ↗

Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms.Semantic proximity Read ↗

Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism.Semantic proximity Read ↗

Neonatal diabetes caused by a homozygous KCNJ11 mutation demonstrates that tiny changes in ATP sensitivity markedly affect diabetes risk.Semantic proximity Read ↗

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

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