BMPR2

BMPR2 (Bone Morphogenetic Protein Receptor Type 2) is a protein that in humans is encoded by the BMPR2 gene. BMPR2 is a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are involved in endochondral bone formation and embryogenesis.

Function

BMPR2 is a receptor for bone morphogenetic proteins (BMPs). It functions as a serine/threonine kinase, which is a type of enzyme that helps regulate cellular processes by adding a phosphate group to proteins. BMPR2 is involved in a variety of biological processes, including the development of blood vessels, the formation of bone and cartilage, and the growth and development of various tissues and organs throughout the body.

Clinical significance

Mutations in the BMPR2 gene have been associated with pulmonary arterial hypertension (PAH), a condition characterized by high blood pressure in the arteries of the lungs. These mutations can be inherited or can occur spontaneously. The BMPR2 gene mutations that cause PAH lead to the production of an abnormal BMPR2 protein that cannot effectively regulate cell growth and division. As a result, the walls of the pulmonary arteries thicken and narrow, making it difficult for blood to flow through these vessels.

See also

• Bone morphogenetic protein
• Pulmonary arterial hypertension
• Serine/threonine-specific protein kinase

References

BMPR2 Resources
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