ALK3 (R486Q), Active

BMPR1A (also known as bone morphogenetic protein receptor 1A) is a member of the transmembrane serine/threonine kinase family that include the type I receptors BMPR1A and BMPR1B and the type II receptor BMPR2. BMPR1A act as a minor susceptibility gene for PTEN-mutation-negative Cowden syndrome. BMPR1A regulates the PTEN protein levels by decreasing PTEN's association with the degradative pathway (1). BMPR1A trafficking plays a significant role in FOP pathogenesis and is also involved in human T-cell differentiation (2).