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Official Full Name: bone morphogenetic protein receptor type 2
Also known as: BMR2; PPH1; BMPR3; BRK-3; POVD1; T-ALK; BMPR-II
This gene encodes a member of the bone morphogenetic protein (BMP) receptor transmembrane serine/threonine kinase family. The ligands for this receptor are members of the TGF-β superfamily. BMP is involved in endochondral bone formation and embryogenesis. These proteins signal by forming a heterogeneous complex of two different types of serine (threonine) kinase receptors: type I receptors of approximately 50-55 kd and type II receptors of approximately 70-80 kd. Mutations in this gene have been associated with primary pulmonary hypertension (familial and fenfluramine-associated) and pulmonary veno-occlusive disease.