BMPR1A

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BMPR1A

A gene on chromosome 10q22.3 that encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases, which binds and activates SMAD transcription regulators. BMPR1A is a receptor for BMP-2 and BMP-4.
 
Molecular pathology
BMPR1A mutations cause juvenile polyposis syndrome, hereditary mixed polyposis syndrome 2, and may cause Cowden disease.
References in periodicals archive ?
In order to cover a representative spectrum of different proteins or mediators, synovial concentrations of BMP-2, BMP-7, endoglin (part of the BMPR-1A complex), bFGF and IGF-1 and its receptor as marker of intrinsic cartilage repair, IL-1[beta] and MMP-13 as a marker of inflammation, aggrecan as an integral part of the extracellular matrix (ECM), and the total protein content were determined.
BMP2, BMP-7, and BMPR-1A were expressed in cartilage and synovia of human knees with focal cartilage lesions [23].
Previously, we described reduced expression of BMPR-1A in degenerated cartilage of knees in OCD patients based on a histological analysis [25].