BMPR1A
BMPR1A (Bone Morphogenetic Protein Receptor Type 1A) is a protein that in humans is encoded by the BMPR1A gene. BMPR1A is a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are involved in endochondral bone formation and embryogenesis.
Function[edit]
BMPR1A is a receptor for bone morphogenetic proteins (BMPs). It can be cleaved short by membrane-type matrix metalloproteinase 1 (MT1-MMP). This cleavage disrupts the ligand binding site of the extracellular domain of BMPR1A and leads to inactivation of BMP-dependent Smad signaling, thus promoting cell migration and invasion.
Clinical significance[edit]
Mutations in the BMPR1A gene are associated with juvenile polyposis syndrome, hereditary mixed polyposis syndrome, and Cowden disease, which are all inherited conditions associated with an increased risk of colorectal cancer.
See also[edit]
References[edit]
External links[edit]
- BMPR1A at the US National Library of Medicine Medical Subject Headings (MeSH)
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