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. BMPR1A trafficking plays a significant role in FOP pathogenesis and is also involved in human T-cell differentiation.
Human molecular genetics, 12(6), 679-684 (2003-03-07)
The tumour suppressor gene PTEN encodes a dual-specificity phosphatase that recognizes protein and phosphatidylinositiol substrates and modulates cellular functions such as migration and proliferation. Germline mutations of PTEN have been shown to cause Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and Proteus syndrome.
T-cell differentiation is driven by a complex network of signals mainly derived from the thymic epithelium. In this study we demonstrate in the human thymus that cortical epithelial cells produce bone morphogenetic protein 2 (BMP2) and BMP4 and that both
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