AFMID
Description
The AFMID gene, also known as AF4/FMR2 family, member 1D, plays a critical role in bone formation. It encodes a protein involved in the regulation of osteoblast differentiation, the cells responsible for creating new bone tissue. Mutations in the AFMID gene can disrupt this process, leading to various skeletal disorders. This gene is also implicated in the development of certain types of cancers, highlighting its multifaceted role in human health.
Associated Diseases
- Osteogenesis imperfecta (brittle bone disease)
- Spondyloepiphyseal dysplasia (a disorder affecting bone growth)
- Craniosynostosis (premature fusion of skull bones)
- Certain types of cancer, including osteosarcoma
Did you know?
AFMID gene mutations are particularly common in cases of osteogenesis imperfecta, a genetic disorder characterized by fragile bones.
