KCNJ11 Gene

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1		Dean Liu	+ 599 word(s)	599	2020-12-15 07:58:08

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Liu, D. KCNJ11 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4287 (accessed on 29 September 2026).

Liu D. KCNJ11 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4287. Accessed September 29, 2026.

Liu, Dean. "KCNJ11 Gene" Encyclopedia, https://encyclopedia.pub/entry/4287 (accessed September 29, 2026).

Liu, D. (2020, December 23). KCNJ11 Gene. In Encyclopedia. https://encyclopedia.pub/entry/4287

Liu, Dean. "KCNJ11 Gene." Encyclopedia. Web. 23 December, 2020.

KCNJ11 Gene

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/kcnj11

Potassium voltage-gated channel subfamily J member 11

genes

References

Bennett K, James C, Hussain K. Pancreatic β-cell KATP channels: Hypoglycaemia and hyperglycaemia. Rev Endocr Metab Disord. 2010 Sep;11(3):157-63. doi:10.1007/s11154-010-9144-2. Review.
Flanagan SE, Clauin S, Bellanné-Chantelot C, de Lonlay P, Harries LW, GloynAL, Ellard S. Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) indiabetes mellitus and hyperinsulinism. Hum Mutat. 2009 Feb;30(2):170-80. doi:10.1002/humu.20838. Review.
Flanagan SE, Edghill EL, Gloyn AL, Ellard S, Hattersley AT. Mutations inKCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in thefirst 6 months of life, with the phenotype determined by genotype. Diabetologia. 2006 Jun;49(6):1190-7.
Gloyn AL, Siddiqui J, Ellard S. Mutations in the genes encoding the pancreaticbeta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetesmellitus and hyperinsulinism. Hum Mutat. 2006 Mar;27(3):220-31. Review.
Gloyn AL, Weedon MN, Owen KR, Turner MJ, Knight BA, Hitman G, Walker M, LevyJC, Sampson M, Halford S, McCarthy MI, Hattersley AT, Frayling TM. Large-scaleassociation studies of variants in genes encoding the pancreatic beta-cell KATPchannel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23Kvariant is associated with type 2 diabetes. Diabetes. 2003 Feb;52(2):568-72.
James C, Kapoor RR, Ismail D, Hussain K. The genetic basis of congenitalhyperinsulinism. J Med Genet. 2009 May;46(5):289-99. doi:10.1136/jmg.2008.064337.
Polak M, Cavé H. Neonatal diabetes mellitus: a disease linked to multiplemechanisms. Orphanet J Rare Dis. 2007 Mar 9;2:12. Review.
Reyes S, Park S, Johnson BD, Terzic A, Olson TM. KATP channel Kir6.2 E23Kvariant overrepresented in human heart failure is associated with impairedexercise stress response. Hum Genet. 2009 Dec;126(6):779-89. doi:10.1007/s00439-009-0731-9.
Rubio-Cabezas O, Klupa T, Malecki MT; CEED3 Consortium. Permanent neonataldiabetes mellitus--the importance of diabetes differential diagnosis in neonates and infants. Eur J Clin Invest. 2011 Mar;41(3):323-33. doi:10.1111/j.1365-2362.2010.02409.x.

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Subjects: Genetics & Heredity

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Update Date: 23 Dec 2020

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