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Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.

Human mutation - 1 Nov 2009

Osbak Kara K, Colclough Kevin, Saint-Martin Cecile, Beer Nicola L, Bellanné-Chantelot Christine, Ellard Sian, Gloyn Anna L

Abstract excerpt

Glucokinase is a key regulatory enzyme in the pancreatic beta-cell. It plays a crucial role in the regulation of insulin secretion and has been termed the glucose sensor in pancreatic beta-cells. Given its central role in the regulation of insulin release it is understandable that mutations in the gene encoding glucokinase (GCK) can cause both hyper- and hypoglycemia. Heterozygous inactivating mutations in GCK...

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Source

Identifiers

PMID: 19790256
DOI: 10.1002/humu.21110

Genes

GCK

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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Research trail→

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Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.PMID 19790256Read ↗

Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.Semantic proximity Read ↗

Glucokinase (GCK) in diabetes: from molecular mechanisms to disease pathogenesis.Semantic proximity Read ↗

Mutations in pancreatic ß-cell Glucokinase as a cause of hyperinsulinaemic hypoglycaemia and neonatal diabetes mellitus.Semantic proximity Read ↗

Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene.Semantic proximity Read ↗

Recognition and Management of Individuals With Hyperglycemia Because of a Heterozygous Glucokinase Mutation.Semantic proximity Read ↗

Diagnosis and management of glucokinase monogenic diabetes in pregnancy: current perspectivesSemantic proximity Read ↗

Phenotypic Characterization of Congenital Hyperinsulinism Due to Novel Activating Glucokinase Mutations.Semantic proximity Read ↗

A novel pathogenic variant in the glucokinase gene found in two Japanese siblings with maturity-onset diabetes of the young 2.Semantic proximity Read ↗

Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.Semantic proximity Read ↗

Mutations in GCK May Lead to MODY2 by Reducing Glycogen Synthesis.Semantic proximity Read ↗

A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-onset diabetes of the young, type 2.Semantic proximity Read ↗

Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families.Semantic proximity Read ↗

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