LQT4 gene: the "missing" ankyrin.
Mutations in ion channels have been implicated in the formation of long QT syndrome (LQTS). However, Mohler et al. have recently uncovered a role for ankyrin-B, a non-ion channel protein, in type IV LQTS. Calcium signalling is altered, and the functions of several channels and pumps that normally interact with wild-type ankyrin-B are impaired in the presence of mutant ankyrin-B. The authors suggest that by disrupting the functions of these channels, a new mechanism has been uncovered that can lead to cardiac myopathy.
Yong
Sandro
S
Center for Molecular Genetics, Department of Molecular Cardiology, Lerner Research Institute, The Cleveland Clinic Foundation, Cleveland, OH, 44195, USA.
Tian
Xiaoli
X
Wang
Qing
Q
D000200:Action Potentials; D000818:Animals; D017487:Ankyrins / Q000235:genetics*; D004562:Electrocardiography; D006321:Heart / Q000502:physiology; D006801:Humans; D008133:Long QT Syndrome / Q000235:genetics*; D008954:Models, Biological
D017487:Ankyrins