Kir6.2

K_ir6.2 is a major subunit of the ATP-sensitive K⁺ channel, an inward-rectifier potassium ion channel.cite web | title = Entrez Gene: KCNJ11 potassium inwardly-rectifying channel, subfamily J, member 11| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3767| accessdate = ] The gene encoding the channel is called KCNJ11 and mutations in this gene are associated with congenital hyperinsulinism.cite journal | author = Smith AJ, Taneja TK, Mankouri J, Sivaprasadarao A | title = Molecular cell biology of KATP channels: implications for neonatal diabetes | journal = Expert Rev Mol Med | volume = 9 | issue = 21 | pages = 1–17 | year = 2007 | pmid = 17666135 | doi = 10.1017/S1462399407000403 | issn = ]

tructure

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 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).cite journal | author = Koo BK, Cho YM, Park BL, Cheong HS, Shin HD, Jang HC, Kim SY, Lee HK, Park KS | title = Polymorphisms of KCNJ11 (Kir6.2 gene) are associated with Type 2 diabetes and hypertension in the Korean population | journal = Diabet. Med. | volume = 24 | issue = 2 | pages = 178–86 | year = 2007 | pmid = 17257281 | doi = 10.1111/j.1464-5491.2006.02050.x | issn = ]

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ee also

* Inward-rectifier potassium ion channel
* Potassium channel

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Aguilar-Bryan L, Bryan J |title=Molecular biology of adenosine triphosphate-sensitive potassium channels. |journal=Endocr. Rev. |volume=20 |issue= 2 |pages= 101–35 |year= 1999 |pmid= 10204114 |doi=
*cite journal | author=Meissner T, Beinbrech B, Mayatepek E |title=Congenital hyperinsulinism: molecular basis of a heterogeneous disease. |journal=Hum. Mutat. |volume=13 |issue= 5 |pages= 351–61 |year= 1999 |pmid= 10338089 |doi= 10.1002/(SICI)1098-1004(1999)13:5<351::AID-HUMU3>3.0.CO;2-R |doilabel=10.1002/(SICI)1098-1004(1999)13:5351::AID-HUMU33.0.CO;2-R
*cite journal | author=Kubo Y, Adelman JP, Clapham DE, "et al." |title=International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels. |journal=Pharmacol. Rev. |volume=57 |issue= 4 |pages= 509–26 |year= 2006 |pmid= 16382105 |doi= 10.1124/pr.57.4.11
*cite journal | author=Gloyn AL, Siddiqui J, Ellard S |title=Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism. |journal=Hum. Mutat. |volume=27 |issue= 3 |pages= 220–31 |year= 2006 |pmid= 16416420 |doi= 10.1002/humu.20292
*cite journal | author=Flechtner I, de Lonlay P, Polak M |title=Diabetes and hypoglycaemia in young children and mutations in the Kir6.2 subunit of the potassium channel: therapeutic consequences. |journal=Diabetes Metab. |volume=32 |issue= 6 |pages= 569–80 |year= 2007 |pmid= 17296510 |doi= 10.1016/S1262-3636(07)70311-7
*cite journal | author=Inagaki N, Gonoi T, Clement JP, "et al." |title=Reconstitution of IKATP: an inward rectifier subunit plus the sulfonylurea receptor. |journal=Science |volume=270 |issue= 5239 |pages= 1166–70 |year= 1996 |pmid= 7502040 |doi=
*cite journal | author=Thomas PM, Cote GJ, Hallman DM, Mathew PM |title=Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy. |journal=Am. J. Hum. Genet. |volume=56 |issue= 2 |pages= 416–21 |year= 1995 |pmid= 7847376 |doi=
*cite journal | author=Iwasaki N, Kawamura M, Yamagata K, "et al." |title=Identification of microsatellite markers near the human genes encoding the beta-cell ATP-sensitive K+ channel and linkage studies with NIDDM in Japanese. |journal=Diabetes |volume=45 |issue= 2 |pages= 267–9 |year= 1996 |pmid= 8549873 |doi=
*cite journal | author=Sakura H, Wat N, Horton V, "et al." |title=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. |journal=Diabetologia |volume=39 |issue= 10 |pages= 1233–6 |year= 1997 |pmid= 8897013 |doi=
*cite journal | author=Thomas P, Ye Y, Lightner E |title=Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy. |journal=Hum. Mol. Genet. |volume=5 |issue= 11 |pages= 1809–12 |year= 1997 |pmid= 8923010 |doi=
*cite journal | author=Inoue H, Ferrer J, Warren-Perry M, "et al." |title=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. |journal=Diabetes |volume=46 |issue= 3 |pages= 502–7 |year= 1997 |pmid= 9032109 |doi=
*cite journal | author=Tucker SJ, Gribble FM, Zhao C, "et al." |title=Truncation of Kir6.2 produces ATP-sensitive K+ channels in the absence of the sulphonylurea receptor. |journal=Nature |volume=387 |issue= 6629 |pages= 179–83 |year= 1997 |pmid= 9144288 |doi= 10.1038/387179a0
*cite journal | author=Halushka MK, Fan JB, Bentley K, "et al." |title=Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis. |journal=Nat. Genet. |volume=22 |issue= 3 |pages= 239–47 |year= 1999 |pmid= 10391210 |doi= 10.1038/10297
*cite journal | author=Tucker SJ, Ashcroft FM |title=Mapping of the physical interaction between the intracellular domains of an inwardly rectifying potassium channel, Kir6.2. |journal=J. Biol. Chem. |volume=274 |issue= 47 |pages= 33393–7 |year= 1999 |pmid= 10559219 |doi=
*cite journal | author=Cui Y, Giblin JP, Clapp LH, Tinker A |title=A mechanism for ATP-sensitive potassium channel diversity: Functional coassembly of two pore-forming subunits. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=98 |issue= 2 |pages= 729–34 |year= 2001 |pmid= 11136227 |doi= 10.1073/pnas.011370498
*cite journal | author=Giblin JP, Cui Y, Clapp LH, Tinker A |title=Assembly limits the pharmacological complexity of ATP-sensitive potassium channels. |journal=J. Biol. Chem. |volume=277 |issue= 16 |pages= 13717–23 |year= 2002 |pmid= 11825905 |doi= 10.1074/jbc.M112209200
*cite journal | author=Crawford RM, Budas GR, Jovanović S, "et al." |title=M-LDH serves as a sarcolemmal K(ATP) channel subunit essential for cell protection against ischemia. |journal=EMBO J. |volume=21 |issue= 15 |pages= 3936–48 |year= 2002 |pmid= 12145195 |doi= 10.1093/emboj/cdf388
*cite journal | author=Tschritter O, Stumvoll M, Machicao F, "et al." |title=The prevalent Glu23Lys polymorphism in the potassium inward rectifier 6.2 (KIR6.2) gene is associated with impaired glucagon suppression in response to hyperglycemia. |journal=Diabetes |volume=51 |issue= 9 |pages= 2854–60 |year= 2002 |pmid= 12196481 |doi=

External links

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