Kir6.2 is a major subunit of the ATP-sensitive K+ channel, a lipid-gated inward-rectifier potassium ion channel. The gene encoding the channel is called KCNJ11 and mutations in this gene are associated with congenital hyperinsulinism.
Structure 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.
Pathology Mutations in this gene are a cause of congenital hyperinsulinism (CHI), 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).
See also Inward-rectifier potassium ion channel Potassium channel
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Further reading
External links GeneReviews/NCBI/NIH/UW entry on Familial Hyperinsulinism GeneReviews/NCBI/NIH/UW entry on Permanent Neonatal Diabetes Mellitus KCNJ11+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH) SUR1+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH) This article incorporates text from the United States National Library of Medicine, which is in the public domain.





