Kir6.2 is a major subunit of the ATP-sensitive K+ channel, an inward-rectifier potassium ion channel.[1] The gene encoding the channel is called KCNJ11 and mutations in this gene are associated with congenital hyperinsulinism.[2]
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It is an integral membrane protein. The protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and is found associated with the sulfonylurea receptor (SUR) to constitute the ATP-sensitive K+ channel.
Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM).[1][3]
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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