Kir2.6
(Redirected from KCNJ18)
| potassium inwardly-rectifying channel, subfamily J, member 18 | |||||||
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| Identifiers | |||||||
| Symbol | KCNJ18 | ||||||
| NCBI gene | 100134444 | ||||||
| HGNC | 39080 | ||||||
| OMIM | 613236 | ||||||
| RefSeq | NM_001194958 | ||||||
| UniProt | B7U540 | ||||||
| Other data | |||||||
| Locus | Chr. 17 p11.2 | ||||||
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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
[edit]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 significance
[edit]Mutations in this gene have been linked to thyrotoxic periodic paralysis.[1]
References
[edit]- ^ a b c 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. doi:10.1016/j.cell.2009.12.024. PMC 2885139. PMID 20074522.
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.