词条 | Kir2.6 |
释义 |
|Name=potassium inwardly-rectifying channel, subfamily J, member 18 |caption= |image= |width= |HGNCid=39080 |Symbol=KCNJ18 |AltSymbols= |EntrezGene=100134444 |OMIM=613236 |RefSeq=NM_001194958 |UniProt=B7U540 |PDB= |ECnumber= |Chromosome=17 |Arm=p |Band=11.2 |LocusSupplementaryData= }} 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. FunctionInwardly 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 signifianceMutations in this gene have been linked to thyrotoxic periodic paralysis.[1] References1. ^1 2 {{cite journal |vauthors=Ryan DP, da Silva MR, Soong TW, etal |title=Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis |journal=Cell |volume=140 |issue=1 |pages=88–98 |date=January 2010 |pmid=20074522 |pmc=2885139 |doi=10.1016/j.cell.2009.12.024}} {{membrane-protein-stub}}{{NLM content}}{{Ion channels|g3}} 1 : Ion channels |
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