NCIt synonyms : Bone Morphogenetic Protein Receptor, Type II (Serine/Threonine Kinase) wt Allele; BMPR2; BMR2; Primary Pulmonary Hypertension 1 Gene; T-ALK; PPH1; BRK-3; BMPR-II; BMPR3;
NCIt definition : Human BMPR2 wild-type allele is located within 2q33-q34 and is approximately 191 kb
in length. This allele, which encodes bone morphogenetic protein receptor type-2 protein,
plays a role in endochondral bone formation, signal transduction and embryogenesis.
Mutations in this gene have been associated with primary pulmonary hypertension.;