Dysregulation of intracellular Ca2+ is an underlying component of various neurodegenerative diseases, and recent evidence implicates RyR in the pathology of AD, further highlighting the functional role of RyRs in the aberrant physiological conditions (Supnet et al., 2010; Bruno et al., 2012; Oules et al., 2012; Wu et al., 2013). The gene discussed is RYR1; the disease is neurodegenerative disease.