GDF6
growth differentiation factor 6
Normal Function
Health Conditions Related to Genetic Changes
Klippel-Feil syndrome
At least 10 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) and a variety of other features affecting many parts of the body. Most GDF6 gene mutations that cause Klippel-Feil syndrome replace single protein building blocks (amino acids) in the GDF6 protein. These mutations likely lead to a reduction in functional protein. Although the GDF6 protein is involved in bone growth and the formation of vertebrae, it is unclear how a shortage of this protein leads to incomplete separation of the cervical vertebrae in people with Klippel-Feil syndrome.
More About This Health ConditionRelated Conditions
Klippel-Feil syndromeColobomaMicrophthalmia
Health Conditions Related to Genetic Changes
At least 10 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) and a variety of other features affecting many parts of the body. Most GDF6 gene mutations that cause Klippel-Feil syndrome replace single protein building blocks (amino acids) in the GDF6 protein. These mutations likely lead to a reduction in functional protein. Although the GDF6 protein is involved in bone growth and the formation of vertebrae, it is unclear how a shortage of this protein leads to incomplete separation of the cervical vertebrae in people with Klippel-Feil syndrome.
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