Ion channels: function unravelled by dysfunction.
Ion channels allow the passage of specific ions and electrical charge. Plasma membrane channels are, for example, important for electrical excitability and transepithelial transport, whereas intracellular channels have roles in acidifying endosomes or in releasing Ca(2+) from stores. The function of several channels emerged from mutations in humans or mice. The resulting phenotypes include kidney stones resulting from impaired endocytosis, hypertension, defective insulin secretion, cardiac arrhythmias, neurological diseases like epilepsy or deafness and even 'developmental' defects such as osteopetrosis.
Jentsch
Thomas J
TJ
Zentrum für Molekulare Neurobiologie, Universität Hamburg, Falkenried 94, D-20246 Hamburg, Germany. jentsch@zmnh.uni-hamburg.de <jentsch@zmnh.uni-hamburg.de>
Hübner
Christian A
CA
Fuhrmann
Jens C
JC
D000818:Animals; D001692:Biological Transport; D004705:Endocytosis; D011992:Endosomes / Q000502:physiology; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007473:Ion Channels / Q000235:genetics / Q000502:physiology*; D009154:Mutation
D007473:Ion Channels