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Background
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PDGFB is a member of the platelet-derived growth factor family. The four members of this family are mitogenic factors for cells of mesenchymal origin and are characterized by a motif of eight cysteines. This gene product can exist either as a homodimer or as a heterodimer with the platelet-derived growth factor alpha polypeptide, where the dimers are connected by disulfide bonds. Mutations in this gene are associated with meningioma. Reciprocal translocations between chromosomes 22 and 7, at sites where this gene and that for COL1A1 are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans resulting from unregulated expression of growth factor.
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Background
References
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- Muller, C., et al., J. Biol. Chem. 278(20):18330-18335 (2003).
- Laprise, M.H., et al., Blood 100(10):3578-3587 (2002).
- Maire, G., et al., Cancer Genet. Cytogenet. 134(2):156-161 (2002).
- Andrae, J., et al., Biochem. Biophys. Res. Commun. 296(3):604-611 (2002).
- Ehrlich, H.P., et al., Cytokines Cell Mol Ther 7(3):85-90 (2002).
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