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Kir4.1 : ウィキペディア英語版
KCNJ10

ATP-sensitive inward rectifier potassium channel 10 is a protein that in humans is encoded by the ''KCNJ10'' gene.〔(【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3766 )

==EAST syndrome==
Humans with mutations in the KCNJ10 gene that cause loss of function in related K+ channels can display Epilepsy, Ataxia, Sensorineural deafness and Tubulopathy, the EAST syndrome (Gitelman syndrome phenotype) reflecting roles for KCNJ10 gene products in the brain, inner ear and kidney. The Kir4.1 channel is expressed in the Stria vascularis and is essential for formation of the endolymph, the fluid that surrounds the mechanosensitive stereocilia of the sensory hair cells that make hearing possible.

抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
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