Kir2.6
Appearance
(Redirected fromKCNJ18)
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. 17p11.2 | ||||||
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TheKir2.6also known asinward rectifier potassium channel 18is a protein that in humans is encoded by theKCNJ18gene.[1]Kir2.6 is aninward-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 bythyroid hormone.[1]
Clinical significance
[edit]Mutations in this gene have been linked tothyrotoxic periodic paralysis.[1]
References
[edit]- ^abcRyan 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.PMC2885139.PMID20074522.
This article incorporates text from theUnited States National Library of Medicine,which is in thepublic domain.