Loss-of-function mutations in this channel may lead to long QT syndrome (LQT2), while gain-of-function mutations may lead to short QT syndrome. Both clinical disorders stem from ion channel dysfunction (so-called channelopathies) that can lead to the risk of potentially fatal cardiac arrhythmias (e.g., torsades de pointes), due to repolarization disturbances of the cardiac action potential. There are far more<unk>  mutations described for long QT syndrome than for short QT syndrome.
HERG
MCN
HER2/neu
MECACAR
AEMT-CC
EPERC
BIM-1
CoWIN