BMPR1A
Description
The BMP Receptor 1A (BMPR1A) gene provides instructions for making a protein that plays a crucial role in bone and muscle development. This receptor protein sits on the surface of cells and binds to bone morphogenetic proteins (BMPs), a family of signaling molecules that regulate various cellular processes. Upon binding, BMPR1A triggers a cascade of events within the cell, ultimately influencing bone growth, muscle formation, and other developmental processes. Mutations in the BMPR1A gene can disrupt these processes, leading to a range of health issues.
Associated Diseases
- Fibrodysplasia Ossificans Progressiva (FOP): A rare genetic disorder characterized by progressive bone formation in muscles, tendons, and ligaments.
- Hereditary Pulmonary Arterial Hypertension (HPAH): A condition where the arteries in the lungs become narrowed and thickened, leading to high blood pressure in the lungs.
- Juvenile Polyposis Syndrome (JPS): A disorder characterized by the growth of multiple polyps in the gastrointestinal tract.
- Other skeletal and muscular disorders: Mutations in BMPR1A can also contribute to other skeletal and muscular abnormalities.
Did you know?
BMPR1A was initially identified in studies of bone development, but its role in other tissues and organs has been increasingly recognized.
