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Open Access Articles- Top Results for Kir2.6

Kir2.6

potassium inwardly-rectifying channel, subfamily J, member 18
Identifiers
Symbol KCNJ18
Entrez 100134444
HUGO 39080
OMIM 613236
RefSeq NM_001194958
UniProt B7U540
Other data
Locus Chr. 17 p11.2

The Kir2.6 also known as inward rectifier potassium channel 18 is a protein that in humans is encoded by the KCNJ18 gene.[1] Kir2.6 is an inward-rectifier potassium ion channel.

Function

Inwardly rectifying potassium channels, such as Kir2.6, maintain resting membrane potential in excitable cells and aid in repolarization of cells following depolarization. Kir2.6 is primarily expressed in skeletal muscle and is transcriptionally regulated by thyroid hormone.[1]

Clinical signifiance

Mutations in this gene have been linked to thyrotoxic periodic paralysis.[1]

References

  1. 1.0 1.1 1.2 Ryan DP, da Silva MR, Soong TW et al. (January 2010). "Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis". Cell 140 (1): 88–98. PMC 2885139. PMID 20074522. doi:10.1016/j.cell.2009.12.024. 

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