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Growth differentiation factors (GDFs) are members of the transforming growth factor (TGF) superfamily that is involved in embryonic development and adult tissue homeostasis. Both GDF6 and GDF7 are closely related to GDF5 which has been shown to induce activation of plasminogen activator, thereby inducing angiogenesis. It is predominantly expressed in long bones during fetal embryonic development and is involved in bone formation. In Xenopus, GDF6 is expressed at the edge of the neural plate and within the anterior neural plate including the eye fields. GDF6 is required for normal formation of some bones and joints in the limbs, skull, and axial skeleton. It may regulate patterning of the ectoderm by interacting with bone morphogenetic proteins (BMPs), and control eye development. Mutations in this gene result in colobomata, which are congenital abnormalities in ocular development, and in Klippel-Feil syndrome (KFS), a congenital disorder of spinal segmentation.
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