Biology:Kir6.2
Generic protein structure example |
Kir6.2 is a major subunit of the ATP-sensitive K+ channel, a lipid-gated 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]
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.[3] Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM).[1][4]
See also
- Inward-rectifier potassium ion channel
- Potassium channel
References
- ↑ 1.0 1.1 "Entrez Gene: KCNJ11 potassium inwardly-rectifying channel, subfamily J, member 11". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3767.
- ↑ "Molecular cell biology of KATP channels: implications for neonatal diabetes". Expert Reviews in Molecular Medicine 9 (21): 1–17. August 2007. doi:10.1017/S1462399407000403. PMID 17666135.
- ↑ "Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism". European Journal of Endocrinology 168 (4): 557–564. April 2013. doi:10.1530/EJE-12-0673. PMID 23345197.
- ↑ "Polymorphisms of KCNJ11 (Kir6.2 gene) are associated with Type 2 diabetes and hypertension in the Korean population". Diabetic Medicine 24 (2): 178–186. February 2007. doi:10.1111/j.1464-5491.2006.02050.x. PMID 17257281.
Further reading
- "Molecular biology of adenosine triphosphate-sensitive potassium channels". Endocrine Reviews 20 (2): 101–135. April 1999. doi:10.1210/edrv.20.2.0361. PMID 10204114.
- "Congenital hyperinsulinism: molecular basis of a heterogeneous disease". Human Mutation 13 (5): 351–361. 1999. doi:10.1002/(SICI)1098-1004(1999)13:5<351::AID-HUMU3>3.0.CO;2-R. PMID 10338089.
- "International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels". Pharmacological Reviews 57 (4): 509–526. December 2005. doi:10.1124/pr.57.4.11. PMID 16382105.
- "Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism". Human Mutation 27 (3): 220–231. March 2006. doi:10.1002/humu.20292. PMID 16416420.
- "Diabetes and hypoglycaemia in young children and mutations in the Kir6.2 subunit of the potassium channel: therapeutic consequences". Diabetes & Metabolism 32 (6): 569–580. December 2006. doi:10.1016/S1262-3636(07)70311-7. PMID 17296510.
- "Reconstitution of IKATP: an inward rectifier subunit plus the sulfonylurea receptor". Science 270 (5239): 1166–1170. November 1995. doi:10.1126/science.270.5239.1166. PMID 7502040. Bibcode: 1995Sci...270.1166I.
- "Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy". American Journal of Human Genetics 56 (2): 416–421. February 1995. PMID 7847376.
- "Identification of microsatellite markers near the human genes encoding the beta-cell ATP-sensitive K+ channel and linkage studies with NIDDM in Japanese". Diabetes 45 (2): 267–269. February 1996. doi:10.2337/diabetes.45.2.267. PMID 8549873.
- "Sequence variations in the human Kir6.2 gene, a subunit of the beta-cell ATP-sensitive K-channel: no association with NIDDM in while Caucasian subjects or evidence of abnormal function when expressed in vitro". Diabetologia 39 (10): 1233–1236. October 1996. doi:10.1007/BF02658512. PMID 8897013.
- "Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy". Human Molecular Genetics 5 (11): 1809–1812. November 1996. doi:10.1093/hmg/5.11.1809. PMID 8923010.
- "Sequence variants in the pancreatic islet beta-cell inwardly rectifying K+ channel Kir6.2 (Bir) gene: identification and lack of role in Caucasian patients with NIDDM". Diabetes 46 (3): 502–507. March 1997. doi:10.2337/diabetes.46.3.502. PMID 9032109.
- "Truncation of Kir6.2 produces ATP-sensitive K+ channels in the absence of the sulphonylurea receptor". Nature 387 (6629): 179–183. May 1997. doi:10.1038/387179a0. PMID 9144288. Bibcode: 1997Natur.387..179T.
- "Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis". Nature Genetics 22 (3): 239–247. July 1999. doi:10.1038/10297. PMID 10391210.
- "Mapping of the physical interaction between the intracellular domains of an inwardly rectifying potassium channel, Kir6.2". The Journal of Biological Chemistry 274 (47): 33393–33397. November 1999. doi:10.1074/jbc.274.47.33393. PMID 10559219.
- "A mechanism for ATP-sensitive potassium channel diversity: Functional coassembly of two pore-forming subunits". Proceedings of the National Academy of Sciences of the United States of America 98 (2): 729–734. January 2001. doi:10.1073/pnas.011370498. PMID 11136227.
- "Assembly limits the pharmacological complexity of ATP-sensitive potassium channels". The Journal of Biological Chemistry 277 (16): 13717–13723. April 2002. doi:10.1074/jbc.M112209200. PMID 11825905.
- "M-LDH serves as a sarcolemmal K(ATP) channel subunit essential for cell protection against ischemia". The EMBO Journal 21 (15): 3936–3948. August 2002. doi:10.1093/emboj/cdf388. PMID 12145195.
- "The prevalent Glu23Lys polymorphism in the potassium inward rectifier 6.2 (KIR6.2) gene is associated with impaired glucagon suppression in response to hyperglycemia". Diabetes 51 (9): 2854–2860. September 2002. doi:10.2337/diabetes.51.9.2854. PMID 12196481.
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 US National Library of Medicine Medical Subject Headings (MeSH)
- SUR1+protein,+human at the US 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.
Original source: https://en.wikipedia.org/wiki/Kir6.2.
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