Functional and Clinical Implications :
PDGFRB is located on chromosome 5. The protein encoded by this gene is a cell surface tyrosine kinase receptor of a member of the platelet derived growth factor family. These growth factors are the mitogen of mesenchymal cells. The binding characteristics of growth factors to receptor monomers determine whether the functional receptors are homodimers (PDGFB or PDGFB) or heterodimers (PDGFA and PDGFB). This gene is very important for the normal development of cardiovascular system and the auxiliary function of actin cytoskeleton rearrangement. The related pathways are ERK signal and focal adhesion (adhesive plaque). GO annotations related to this gene include transferase activity, transfer of phosphorus containing groups, and protein tyrosine kinase activity. PDGFRA is an important paralog of this gene. PDGFRB is surrounded on chromosome 5 by granulocyte macrophage colony stimulating factor and macrophage colony stimulating factor receptor genes; These three genes may be related to 5-q syndrome. Translocation between chromosomes 5 and 12 fused the gene with ETV6 gene, resulting in chronic myeloproliferative disease and eosinophilia. Diseases associated with PDGFRb include KOSAKI overgrowth syndrome and penttinen premature aging syndrome (PMID: 33449152, PMID: 30607019, PMID: 2373542, PMID: 18483217, PMID: 14745969).
