[Growth Differentiation Factor 5, encoded by the human GDF5 gene, is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This protein is predominantly expressed in long bones during human embryonic development. Mutations in this gene are associated with acromesomelic dysplasia, Hunter-Thompson type; brachydactyly, type C; and chondrodysplasia, Grebe type. These associations confirm that the gene product plays a role in skeletal development. (From LocusLink, Swiss-Prot and NCI) ( NCI )]
UMLS (NCI) C0253373 - Amino Acid, Peptide, or Protein
- Biologically Active Substance