Channelopathies: Kir2.1 mutations jeopardize many cell functions.
Andersen's syndrome is caused by mutations in the potassium channel Kir2.1, a major determinant of resting membrane potential. The clinical features of this disease illustrate the importance of a stable resting membrane potential for many cell functions.
Jongsma
H J
HJ
Department of Medical Physiology, University Medical Center Utrecht, PO Box 85060, 3508 AB Utrecht, The Netherlands. h.j.jongsma@med.uu.nl
Wilders
R
R
D000818:Animals; D006352:Heart Ventricles / Q000503:physiopathology; D006801:Humans; D008133:Long QT Syndrome / Q000235:genetics / Q000503:physiopathology*; D008564:Membrane Potentials / Q000502:physiology; D016296:Mutagenesis; D010245:Paralyses, Familial Periodic / Q000235:genetics / Q000503:physiopathology*; D015221:Potassium Channels / Q000235:genetics / Q000502:physiology*; D024661:Potassium Channels, Inwardly Rectifying
D015221:Potassium Channels; D024661:Potassium Channels, Inwardly Rectifying