PDGFRB [MD16R]

Beta-type Platelet-Derived Growth Factor Receptor is a protein that in humans is encoded by the PDGFRB gene. This gene encodes a cell surface tyrosine kinase receptor for members of the Platelet-Derived Growth Factor family (PDGF), which is a mitogen for mesenchyme- and glia-derived cells. PDGF consists of two chains, A and B, which dimerize to form functionally distinct isoforms, PGDF-AA, PDGF-AB and PDGF-BB. Translocation of the PDGFR gene with the Tel gene is linked to Chronic Myelomonocytic Leukemia (CMML), a myelodysplastic syndrome, and demonstrates the oncogenic potential of the PDGF receptors. A translocation between chromosomes 5 and 12, that fuses this gene to that of the translocation, ETV6, leukemia gene, results in chronic myeloproliferative disorder with eosinophilia.