嚢胞性線維症膜コンダクタンス制御因子
関連文献

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7番染色体上のCFTR遺伝子の位置
ヒトのCFTRの脱リン酸化、ATP非結合状態の全体構造。PDB: 5UAK​。
CFTRは、肺内部の細胞で水分子とCl−イオンの流れを制御するチャネルタンパク質である。CFTRタンパク質が正しく機能しているときには(1)、イオンは細胞内外へ移動す。しかし、CFTRタンパク質が機能不全となると(2)、イオンはCFTRチャネルに阻まれて移動することができなくなる。このような状態は嚢胞性線維症でみられ、肺には濃厚な粘液が蓄積する。