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PDGFRB is a receptor tyrosine kinase and has been implicated in atherogenesis and in cell transformation by the SIS oncogene. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. The gene is flanked on chromosome 5 by the genes for granulocyte-macrophage colony-stimulating factor and macrophage-colony stimulating factor receptor; all three genes may be implicated in the 5-q syndrome. A translocation between chromosomes 5 and 12, that fuses PDGFRB (CD140b) to that of the translocation, ETV6, leukemia gene, results in chronic myeloproliferative disorder with eosinophilia.
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