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Background
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The bone morphogenetic protein (BMP) receptors belong to a family of transmembrane serine/threonine kinases including the type I receptors BMPR1A and BMPR1B and the type II receptor BMPR2. These receptors are also closely related to the activin receptors, ACVR1 and ACVR2. The ligands of these receptors are members of the TGF-beta superfamily. Both activins and TGF-beta transduce their signals through the formation of heteromeric complexes with 2 different types of serine (threonine) kinase receptors. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. BMP receptors are highly expressed in bone, skeletal muscle, heart and liver tissue. BMPRs play a crucial role during development as mutations or deletions to the BMPR genes can cause juvenile polyposis, disrupt normal dorsal/ventral patterning during limb development, and may be a factor in the progession of Cowden-like syndrome. Germline mutations in the BMPR2 gene encoding bone morphogenetic protein (BMP) type II receptor (BMPR-II) have been reported in patients with primary pulmonary hypertension (PPH).
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Background
References
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- Zhou, X.-P., et al., Am. J. Hum. Genet. 69(4):704-711 (2001).
- Howe, J.R., et al., Nat. Genet. 28(2):184-187 (2001).
- ten Dijke, P., et al., Oncogene 8(10):2879-2887 (1993).
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