Heterozygous loss-of-function mutations in PAH-related genes, such as BMPR2, ACVRL1, ENG, GDF2, BMP10, and KCNK3, have been associated with pathogenic features of PAH, including depolarization, proliferation, apoptosis resistance, and PASMC constriction [11,187]. The gene discussed is BMPR2; the disease is pulmonary arterial hypertension.