BMPR1B
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.