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Article

Functional analysis of six Kir6.2 (KCNJ11) mutations causing neonatal diabetes.

Pflugers Archiv : European journal of physiology - 1 Dec 2006

Girard Christophe A J, Shimomura Kenju, Proks Peter, Absalom Nathan, Castano Luis, Perez de Nanclares Guiomar, Ashcroft Frances M

Abstract excerpt

ATP-sensitive potassium (K(ATP)) channels, composed of pore-forming Kir6.2 and regulatory sulphonylurea receptor (SUR) subunits, play an essential role in insulin secretion from pancreatic beta cells. Binding of ATP to Kir6.2 inhibits, whereas interaction of Mg-nucleotides with SUR, activates the channel. Heterozygous activating mutations in Kir6.2 (KCNJ11) are a common cause of neonatal diabetes (ND). We...

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Identifiers

PMID: 17021801
DOI: 10.1007/s00424-006-0112-3

Genes

KCNJ11

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Functional analysis of six Kir6.2 (KCNJ11) mutations causing neonatal diabetes.PMID 17021801Read ↗

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Kir6.2 mutations causing neonatal diabetes provide new insights into Kir6.2-SUR1 interactions.Semantic proximity Read ↗

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