GDF5
GDF5
GDF5 (pronounced: gee-dee-eff-five), also known as Growth Differentiation Factor 5, is a protein that in humans is encoded by the GDF5 gene.
Pronunciation
GDF5 is pronounced as "gee-dee-eff-five".
Etymology
The term GDF5 is an acronym for Growth Differentiation Factor 5. The name reflects the protein's role in the body, as it is involved in the development and maintenance of bone and cartilage.
Function
GDF5 is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site which is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues.
Clinical significance
Mutations in this gene are associated with skeletal conditions such as brachydactyly, symphalangism, and chondrodysplasia.
Related terms
- Bone morphogenetic protein: A group of growth factors also known as cytokines and as metabologens.
- TGF-beta: Transforming growth factor beta is a superfamily of cytokines with more than 30 different types, some of which are involved in embryogenesis and cell differentiation.
- Brachydactyly: A medical term which literally means "shortness of the fingers and toes" (digits). The shortness is relative to the length of other long bones and other parts of the body.
- Symphalangism: A condition in which there is congenital fusion of the phalanges of the hand.
- Chondrodysplasia: A group of rare genetic skeletal disorders that are usually manifested as disproportionate short stature.
External links
- Medical encyclopedia article on GDF5
- Wikipedia's article - GDF5
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