Mutations in this gene are strongly associated with CPVT (Tang, Tian, Wang, Fill, & Chen, 2012) and can lead to lethal arrhythmias due to aberrant activation of the ryanodine receptor 2 (RyR2), which is responsible for Ca2+ release from the sarcoplasmic reticulum into the cytoplasm during cardiac excitation–contraction coupling. The gene discussed is RYR2; the disease is catecholaminergic polymorphic ventricular tachycardia.