GDF6

GDF6 or Growth Differentiation Factor 6 is a protein that in humans is encoded by the GDF6 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

GDF6 plays a key role in the formation of bone and cartilage. It is involved in the development of the eye, particularly the cornea and sclera. In addition, GDF6 is also important for the development of the nervous system and the skin.

Clinical significance

Mutations in the GDF6 gene are associated with several disorders. These include Klippel-Feil syndrome, which is characterized by congenital fusion of the cervical vertebrae, and Leber congenital amaurosis, a severe form of inherited retinal degeneration leading to blindness. Mutations in GDF6 have also been linked to microphthalmia, a condition that results in abnormally small eyes.

Research

Research into GDF6 has potential implications for the treatment of osteoarthritis. Studies have shown that GDF6 can stimulate the production of cartilage, suggesting it could be used as a therapeutic agent in the treatment of this condition.

See also

• Bone morphogenetic protein
• TGF-beta superfamily
• Klippel-Feil syndrome
• Leber congenital amaurosis
• Microphthalmia

References

This article is a stub related to medicine. You can help WikiMD by expanding it!