The physiological impact of this mutation was assessed using whole-patch clamp tests to observe changes to membrane potential and current, with experiments demonstrating loss of channel function in mutant cells compared to WT KCNK3. More limited evidence is available for the role of ATP13A3, a P-type ATPase, in PAH; siRNA-mediated knockdown of expression resulted in a reduction in cell proliferation and increased apoptosis, as well as the loss of endothelial integrity in hPAECs [230]. The gene discussed is ATP13A3; the disease is pulmonary arterial hypertension.