RUNX2 : RUNX family transcription factor 2
RUNX2: The Master Gene Orchestrating Bone, Teeth, and Cartilage Development
Description
The RUNX2 gene plays a vital role in the development and maintenance of our musculoskeletal system. It encodes a protein that serves as a "master switch," controlling the activity of other genes involved in the formation of bones (osteoblasts) and teeth. This protein, RUNX2, is a transcription factor that regulates gene expression by attaching to specific DNA regions.
Associated Diseases
Mutations in the RUNX2 gene can lead to various genetic disorders affecting bone and teeth development. These include:
- Cleidocranial Dysplasia (CCD): A skeletal disorder characterized by underdeveloped or absent collarbones (clavicles) and dysmorphic facial features.
- Osteogenesis Imperfecta (OI): A genetic disorder resulting in bone fragility and increased risk of fractures.
- Malignant Tumor of the Blood Progenitor Cell (Acute Myeloid Leukemia, AML): A cancer of the blood cells involving RUNX2-ETO fusion protein.
Did you Know ?
RUNX2 mutations account for approximately 10% of CCD cases and 2% of OI cases.
