GDF7

GDF7, also known as Growth Differentiation Factor 7, is a protein that in humans is encoded by the GDF7 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

GDF7 is involved in bone and cartilage development. It plays a crucial role in the formation of the joints, particularly in the specification of the dorsal-ventral axis and in limb development. It is also involved in the development of the nervous system, particularly in the dorsal spinal cord and the hindbrain.

Clinical significance

Mutations in the GDF7 gene have been associated with Klippel-Feil syndrome, a rare disorder characterized by the fusion of two or more cervical vertebrae. Research is ongoing to determine the potential role of GDF7 in other diseases, such as osteoarthritis and spinal cord injuries.

See also

• Bone morphogenetic protein
• TGF-beta superfamily
• Klippel-Feil syndrome

References

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.