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Article

Heterozygous ABCC8 mutations are a cause of MODY.

Diabetologia - 1 Jan 2012

Bowman P, Flanagan S E, Edghill E L, Damhuis A, Shepherd M H, Paisey R, Hattersley A T, Ellard S

Abstract excerpt

AIMS/HYPOTHESIS: The ABCC8 gene encodes the sulfonylurea receptor 1 (SUR1) subunit of the pancreatic beta cell ATP-sensitive potassium (K(ATP)) channel. Inactivating mutations cause congenital hyperinsulinism (CHI) and activating mutations cause transient neonatal diabetes (TNDM) or permanent neonatal diabetes (PNDM) that can usually be treated with sulfonylureas. Sulfonylurea sensitivity is also a feature of...

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Share to ATP-Binding Cassette Transporters
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Share to Leukocytes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Potassium Channels, Inwardly Rectifying

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Share to Receptors, Drug

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Source

Identifiers

PMID: 21989597
DOI: 10.1007/s00125-011-2319-x

Genes

ABCC8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Heterozygous ABCC8 mutations are a cause of MODY.PMID 21989597Read ↗

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Clinical and Genetic Characteristics of ABCC8 Nonneonatal Diabetes Mellitus: A Systematic Review.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 ↗

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