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Open Access Articles- Top Results for Kir6.2

Kir6.2

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Identifiers
SymbolsKCNJ11 ; BIR; HHF2; IKATP; KIR6.2; PHHI; TNDM3
External IDsOMIM600937 MGI107501 HomoloGene441 IUPHAR: 442 GeneCards: KCNJ11 Gene
Orthologs
SpeciesHumanMouse
Entrez376716514
EnsemblENSG00000187486ENSMUSG00000096146
UniProtQ14654Q61743
RefSeq (mRNA)NM_000525NM_001204411
RefSeq (protein)NP_000516NP_001191340
Location (UCSC)Chr 11:
17.41 – 17.41 Mb
Chr 7:
46.1 – 46.1 Mb
PubMed search[1][2]

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]

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 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]


See also

References

  1. ^ a b "Entrez Gene: KCNJ11 potassium inwardly-rectifying channel, subfamily J, member 11". 
  2. ^ Smith AJ, Taneja TK, Mankouri J, Sivaprasadarao A (2007). "Molecular cell biology of KATP channels: implications for neonatal diabetes". Expert Rev Mol Med 9 (21): 1–17. PMID 17666135. doi:10.1017/S1462399407000403. 
  3. ^ Koo BK, Cho YM, Park BL, Cheong HS, Shin HD, Jang HC, Kim SY, Lee HK, Park KS (2007). "Polymorphisms of KCNJ11 (Kir6.2 gene) are associated with Type 2 diabetes and hypertension in the Korean population". Diabet. Med. 24 (2): 178–86. PMID 17257281. doi:10.1111/j.1464-5491.2006.02050.x. 

Further reading

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External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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