GDF3 : growth differentiation factor 3
Description
The GDF3 (growth differentiation factor 3) is a protein-coding gene located on chromosome 12.
The GDF3 gene provides instructions for making a protein that is part of the transforming growth factor beta (TGFβ) superfamily, 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.
GDF3 is also known as KFS3, MCOP7, MCOPCB6.
Associated Diseases
- Klippel-Feil syndrome 3, autosomal dominant
- Microphthalmia, isolated, with coloboma 6
- Microphthalmia, isolated 7
- Isolated Klippel-Feil syndrome
- Microphthalmia
- Coloboma
- Klippel-Feil syndrome
