GDF3 gene

growth differentiation factor 3

The GDF3 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 GDF3 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 both before and after birth. While the GDF3 protein is known to be involved in bone and cartilage development, its exact role is unclear.

The GDF3 protein has also been found to be involved in the development of the eyes, specifically the specialized light-sensitive tissue that lines the back of the eye called the retina.

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At least four mutations in the GDF3 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. GDF3 gene mutations that cause Klippel-Feil syndrome replace single protein building blocks (amino acids) in the GDF3 protein. These mutations likely lead to a reduction in functional protein. Although the GDF3 protein is involved in bone growth, 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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Cytogenetic Location: 12p13.1, which is the short (p) arm of chromosome 12 at position 13.1

Molecular Location: base pairs 7,689,785 to 7,695,764 on chromosome 12 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 12p13.1, which is the short (p) arm of chromosome 12 at position 13.1
  • GDF-3
  • GDF3_HUMAN
  • growth/differentiation factor 3