GDF5
MIM.601146 20q11.2
GDF5 is a member of the transforming growth factor-beta (TGFB) superfamily. The TGF-beta superfamily comprises a number of functionally diverse growth factors/signaling molecules that elicit their response upon binding to serine-threonine kinase receptors. CDMP1 is closely related to the subfamily of bone morphogenetic proteins (BMPs). CDMP1 is predominantly expressed at sites of skeletal morphogenesis.
Pathology
germline mutations in
- Hunter-Thompson type chondrodysplasia (Hunter-Thompson type acromelic dysplasia)
- brachydactyly type C (MIM.113100)
- Grebe type chondrodysplasia
- fibular hypoplasia and complex brachydactyly (DuPan syndrome) (MIM.228900)
- proximal symphalangism (MIM.185800)
- multiple synostoses syndrome (SYNS2) (MIM.610017)