細胞膜イオンチャネルの異常

抄録

Ion permeating membrane proteins, ion channels, provide pathway for ions to travel across the membrane along the ionic concentration gradient without necessity of energy. Mutations in genes encoding ion channel produce variety of diseases, called “channelopathy” . Channelopathy exhibit phenotypes due to malfunction of transcription/ translation, membrane trafficking, protein processing, protein degradation, proper localization, kinetics of ion channels. Disordered molecules or milieu regulating ion channel function, such as lipid-rich membrane domain “caveola” , also cause variety of diseases. This review discusses representative channelopathy and disordered channel-regulating molecules and milieu.