GDF6

The GDF6 gene provides instructions for making a protein that is part of the transforming growth factor beta (TGFβ) superfamily, which is a group of proteins that help control the growth and development of tissues throughout the body. Within the TGFβ superfamily, the GDF6 protein belongs to the bone morphogenetic protein family, which is involved in regulating the growth and maturation (differentiation) of bone and cartilage. Cartilage is a tough but flexible tissue that makes up much of the skeleton during early development. The proteins in this family are regulators of cell growth and differentiation in both embryonic and adult tissue. The GDF6 protein is necessary for the formation of bones and joints in the limbs, skull, spine, chest, and ribs. The protein is involved in setting up boundaries between bones during skeletal development.

Klippel-Feil syndrome - caused by mutations in the GDF6 gene

A few mutations in the GDF6 gene have been found to cause Klippel-Feil syndrome, a condition characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae). GDF6 gene mutations that cause Klippel-Feil syndrome lead to a change in single protein building blocks (amino acids) in the GDF6 protein. These mutations likely lead to a reduction in functional protein. While the GDF6 protein is involved in bone growth and the formation of vertebrae, it is unclear how a shortage in these proteins leads to incomplete separation of the vertebrae, specifically the cervical vertebrae, in people with Klippel-Feil syndrome.

Genetics Home Reference provides information about these additional conditions, which are also associated with changes in the GDF6 gene:

• coloboma
• microphthalmia