Article
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.
Human mutation - 1 Feb 2009
Flanagan Sarah E, Clauin Séverine, Bellanné-Chantelot Christine, de Lonlay Pascale, Harries Lorna W, Gloyn Anna L, Ellard Sian
Abstract excerpt
The beta-cell ATP-sensitive potassium (K(ATP)) channel is a key component of stimulus-secretion coupling in the pancreatic beta-cell. The channel couples metabolism to membrane electrical events bringing about insulin secretion. Given the critical role of this channel in glucose homeostasis it is therefore not surprising that mutations in the genes encoding for the two essential subunits of the channel can result...
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