PDGFRB

1GQ5, 1H9O, 1SHA, 2L6W, 2PLD, 2PLE, 3MJG515918596ENSG00000113721ENSMUSG00000024620P09619P05622NM_002609NM_001355016NM_001355017NM_001146268NM_008809NP_002600NP_001341945NP_001341946NP_001139740NP_032835Platelet-derived growth factor receptor beta is a protein that in humans is encoded by the PDGFRB gene. Platelet-derived growth factor receptor beta is a protein that in humans is encoded by the PDGFRB gene. The PDGFRB gene is located on human chromosome 5 at position q32 (designated as 5q32) and contains 25 exons. The gene is flanked by the genes for granulocyte-macrophage colony-stimulating factor and Colony stimulating factor 1 receptor (also termed macrophage-colony stimulating factor receptor), all three of which may be lost together by a single deletional mutation thereby causing development of the 5q-syndrome. Other genetic abnormalities in PDGFRB lead to various forms of potentially malignant bone marrow disorders: small deletions in and chromosome translocations causing fusions between PDGFRB and anyone of at least 30 genes can cause Myeloproliferative neoplasms that commonly involve eosinophilia, eosinophil-induced organ injury, and possible progression to aggressive leukemia (see blow). The PDGFRB gene encodes a typical receptor tyrosine kinase, which is a transmembrane protein consisting of an extracellular ligand binding domain, a transmembrane domain and an intracellular tyrosine kinase domain. The molecular mass of the mature, glycosylated PDGFRβ protein is approximately 180 kDa.