Expression of the mutant SIGMAR1 resulted in a non-functional Sigmar1 caused by mislocalization from MAM, impairing Sigmar1-IP3R3 interaction and thereby altering intracellular and mitochondrial calcium handling as in human neuroblastoma cell lines (SH-SY5Y and SK-N-BE), murine motor neuron-like NSC-34 cells, and N2a cells (Gregianin et al., 2016; Watanabe et al., 2016). The gene discussed is ITPR3; the disease is neuroblastoma.