Species Human Entrez 5155 | Human Mouse Ensembl ENSG00000100311 | |
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Aliases PDGFB, IBGC5, PDGF-2, PDGF2, SIS, SSV, c-sis, platelet derived growth factor subunit B External IDs MGI: 97528 HomoloGene: 74303 GeneCards: PDGFB | ||
Platelet-derived growth factor subunit B is a protein that in humans is encoded by the PDGFB gene.
Contents
Function
The protein encoded by this gene is a member of the platelet-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.
Clinical significance
Mutations in this gene are associated with meningioma. Reciprocal translocations between chromosomes 22 and 17, at sites where this gene and that for COL1A1 are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans resulting from unregulated expression of growth factor. Two splice variants have been identified for this gene.