GDF5

GDF5 or Growth Differentiation Factor 5 is a protein that in humans is encoded by the GDF5 gene. It is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site which is cleaved to produce a mature protein containing seven conserved cysteine residues.

Function

GDF5 is a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. It is expressed in long bones during human embryonic development. The protein plays a key role in the formation of morphogenetic features such as bones and joints, and has been implicated in a variety of diseases, including osteoarthritis and chondrodysplasia syndromes.

Clinical significance

Mutations in this gene are associated with acromesomelic dysplasia, Hunter-Thompson type; brachydactyly, type C; and chondrodysplasia, Grebe type. These three disorders are characterized by skeletal abnormalities.

Research

Research into GDF5 has suggested that it may have therapeutic potential in the treatment of osteoarthritis. In animal studies, GDF5 has been shown to stimulate the growth of new cartilage and is being investigated for use in humans.

See also

• Bone morphogenetic protein
• TGF-beta superfamily
• Osteoarthritis
• Chondrodysplasia

References

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