Gene Symbol | PDGFRB |
Entrez Gene ID | 5159 |
Full Name | platelet derived growth factor receptor beta |
Synonyms | CD140B,IBGC4,IMF1,JTK12,KOGS,PDGFR,PDGFR-1,PDGFR1,PENTT |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(Human) |
Genome | |
Summary | The protein encoded by this gene is a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. 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 (PDGFB or PDGFD) or a heterodimer (PDGFA and PDGFB). This gene is essential for normal development of the cardiovascular system and aids in rearrangement of the actin cytoskeleton. This 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 this gene to that of the ETV6 gene, results in chronic myeloproliferative disorder with eosinophilia. [provided by RefSeq, Aug 2017]. |
Disorder MIM: | |
Disorder Html: | Myeloproliferative disorder with eosinophilia, 131440 (4); Basal ganglia calcification, idiopathic, 4, 615007 (3); Myofibromatosis, infantile, 1, 228550 (3); Premature aging syndrome, Penttinen type, 601812 (3); Kosaki overgrowth syndrome, 616592 (3) |