OTP
The OTP Gene: Unraveling Its Role in Disease and Health
Description
The OTP gene (orthopedia homeobox) is a key regulator of bone and cartilage development. It encodes a transcription factor that controls the expression of other genes involved in these processes. The OTP gene is located on chromosome 8q24.3 and consists of two exons and one intron.
Associated Diseases
Mutations in the OTP gene have been associated with several developmental disorders, including:
- Osteogenesis Imperfecta (OI): A group of inherited disorders characterized by bone fragility and deformities.
- Dentinogenesis Imperfecta (DI): A rare genetic disorder affecting the development of dentin, the hard tissue that forms the majority of teeth.
- Ehlers-Danlos Syndrome (EDS): A group of inherited connective tissue disorders causing skin and joint abnormalities.
- Multiple Epiphyseal Dysplasia (MED): A rare genetic disorder affecting the growth and development of bones in the hands and feet.
Did you Know ?
Osteogenesis Imperfecta (OI) is the most common of the OTP-related disorders, affecting approximately 1 in 10,000 to 1 in 20,000 individuals worldwide.
