BVES
Description
The BVES gene (Bone Morphogenetic Protein and Extracellular Matrix 1) provides instructions for making a protein involved in bone formation and cartilage development. This protein helps regulate the activity of bone morphogenetic proteins (BMPs), which are crucial signaling molecules for bone growth. BVES plays a role in various stages of bone development, including the formation of new bone cells (osteoblasts) and the breakdown of old bone cells (osteoclasts). Its complex interactions with BMPs and other factors contribute to the delicate balance required for healthy bone formation.
Associated Diseases
- **Osteogenesis imperfecta (OI):** A group of genetic disorders characterized by weak bones, often caused by mutations in genes involved in collagen production, including BVES.
- **Bone dysplasia:** Abnormalities in bone development, potentially linked to BVES gene mutations.
- **Skeletal deformities:** Malformations of the skeletal system, including scoliosis and dwarfism, can sometimes be associated with BVES variations.
Did you know?
Mutations in the BVES gene can lead to different bone phenotypes, highlighting its complex role in bone development.
