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Article

Relapsing diabetes can result from moderately activating mutations in KCNJ11.

Human molecular genetics - 1 Apr 2005

Gloyn Anna L, Reimann Frank, Girard Christophe, Edghill Emma L, Proks Peter, Pearson Ewan R, Temple I Karen, Mackay Deborah J G, Shield Julian P H, Freedenberg Debra, Noyes Kathryn, Ellard Sian, Ashcroft Frances M, Gribble Fiona M, Hattersley Andrew T

Abstract excerpt

Neonatal diabetes can either remit and hence be transient or else may be permanent. These two phenotypes were considered to be genetically distinct. Abnormalities of 6q24 are the commonest cause of transient neonatal diabetes (TNDM). Mutations in KCNJ11, which encodes Kir6.2, the pore-forming subunit of the ATP-sensitive potassium channel (K(ATP)), are the commonest cause of permanent neonatal diabetes (PNDM). In...

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Share to Chromosomes, Human, Pair 6
Share to Electrophysiology

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Inhibitory Concentration 50

Share to Potassium Channels

Share to Potassium Channels, Inwardly Rectifying

Share to Receptors, Drug

Share to Sulfonylurea Receptors

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Source

Identifiers

PMID: 15718250
DOI: 10.1093/hmg/ddi086

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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Relapsing diabetes can result from moderately activating mutations in KCNJ11.PMID 15718250Read ↗

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