Platelet-derived growth factor subunit B is aprotein that in humans is encoded by thePDGFBgene.[5][6]
The protein encoded by this gene is a member of theplatelet-derived growth factor family. The four members of this family are mitogenic factors for cells of mesenchymal origin and are characterized by a motif of eight cysteines. This gene product can exist either as a homodimer (PDGF-BB) or as a heterodimer with the platelet-derived growth factor alpha (PDGFA) polypeptide (PDGF-AB), where the dimers are connected by disulfide bonds.
Mutations in this gene are associated withmeningioma. Reciprocal translocations between chromosomes 22 and 17, at sites where thePDGFB andCOL1A1 genes are respectively located or, alternatively, an abnormal small supernumeraryring chromosome merge these two genes to form aCOL1A-PDGFBfusion gene. This fusion gene greatly overproduces PDGFB and is considered responsible for causing the development and/or progression of three closely relatedfibroblastic and myofibroblastic tumors of the skin:giant cell fibroblastoma,dermatofibrosarcoma protuberans, anddermatofibrosarcoma protuberans, sarcomatous.[7]
Two splice variants have been identified for thePDGFB gene.[8]
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