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Article

A new familial form of a late-onset, persistent hyperinsulinemic hypoglycemia of infancy caused by a novel mutation in KCNJ11.

Channels (Austin, Tex.) - 2 Nov 2017

Yang Yen-Yu, Long Roger K, Ferrara Christine T, Gitelman Stephen E, German Michael S, Yang Shi-Bing

Abstract excerpt

The ATP-sensitive potassium channel (KATP) functions as a metabo-electric transducer in regulating insulin secretion from pancreatic β-cells. The pancreatic KATP channel is composed of a pore-forming inwardly-rectifying potassium channel, Kir6.2, and a regulatory subunit, sulphonylurea receptor 1 (SUR1). Loss-of-function mutations in either subunit often lead to the development of persistent hyperinsulinemic...

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Share to Congenital Hyperinsulinism
Share to KCNJ11 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Potassium Channels, Inwardly Rectifying

Source

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Identifiers

PMID: 29087246
DOI: 10.1080/19336950.2017.1393131
PMCID: PMC5786184

Genes

KCNJ11

Variants

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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