BMPR1B

(redirected from bone morphogenetic protein receptor type-1B)
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BMPR1B

A gene on chromosome 4q23-q24 that encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases, which binds and activates SMAD transcriptional regulators. BMPR1A is a receptor for BMP7/OP-1 and GDF5.

Molecular pathology
BMPR1B mutations cause acromesomelic chondrodysplasia with genital anomalies, brachydactyly type A2, and are associated with primary pulmonary hypertension.
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