GDF5
Description
The GDF5 gene, also known as Growth Differentiation Factor 5, plays a crucial role in skeletal development, particularly in the formation of bones and cartilage. It encodes a protein that acts as a signaling molecule, influencing cell growth, differentiation, and the formation of the skeletal framework. GDF5‘s activity is essential during embryonic development, ensuring proper bone growth and joint formation. Mutations in this gene can lead to a range of skeletal disorders, highlighting its importance in maintaining skeletal health.
Associated Diseases
- Achondroplasia
- Brachydactyly
- Klippel-Feil Syndrome
- Multiple Synostoses Syndrome
- Cartilage-Hair Hypoplasia
- Greig Cephalopolysyndactyly Syndrome
- Langer-Giedion Syndrome
- Diastrophic Dysplasia
Did you know?
GDF5 is involved in the development of the growth plate, the region of cartilage responsible for bone lengthening. Mutations in GDF5 can lead to dwarfism due to impaired growth plate function.
