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Article

A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.

Human molecular genetics - 1 Jun 2006

Proks Peter, Arnold Amanda L, Bruining Jan, Girard Christophe, Flanagan Sarah E, Larkin Brian, Colclough Kevin, Hattersley Andrew T, Ashcroft Frances M, Ellard Sian

Abstract excerpt

Neonatal diabetes is a genetically heterogeneous disorder with nine different genetic aetiologies reported to date. Heterozygous activating mutations in the KCNJ11 gene encoding Kir6.2, the pore-forming subunit of the ATP-sensitive potassium (K(ATP)) channel, are the most common cause of permanent neonatal diabetes. The sulphonylurea receptor (SUR) SUR1 serves as the regulatory subunit of the K(ATP) channel in...

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Share to ATP-Binding Cassette Transporters
Share to Diabetes Mellitus, Type 1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electrophysiology

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: 16613899
DOI: 10.1093/hmg/ddl101

Genes

ABCC8
KCNJ11

Provenance

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