BMPR1A

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BMPR1A

A gene on chromosome 10q22.3 that encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases, which binds and activates SMAD transcription regulators. BMPR1A is a receptor for BMP-2 and BMP-4.
 
Molecular pathology
BMPR1A mutations cause juvenile polyposis syndrome, hereditary mixed polyposis syndrome 2, and may cause Cowden disease.