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 polypeptide (PDGF-AB), where the dimers are connected by disulfide bonds. Mutations in this gene are associated with meningioma. Reciprocal translocations between chromosomes 22 and 7, 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 alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008].
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Protein Aliases: Becaplermin; c-sis; PDGF A-chain; pdgf protein; PDGF subunit A; PDGF subunit B; PDGF, B chain; PDGF-1; PDGF-2; platelet derived growth factor, alpha; platelet derived growth factor, B polypeptide; platelet-derived growth factor 2; Platelet-derived growth factor A chain; platelet-derived growth factor A-chain; platelet-derived growth factor alpha chain; Platelet-derived growth factor alpha polypeptide; Platelet-derived growth factor B chain; Platelet-derived growth factor beta polypeptide; platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog); Platelet-derived growth factor subunit A; Platelet-derived growth factor subunit B; platelet-derived growth factor, beta polypeptide (oncogene SIS); Platelet-derived growth factor, same as Sis (Simian sarcoma viral oncogene homologue, c-sis); Proto-oncogene c-Sis
Gene Aliases: c-sis; IBGC5; PDGF-2; PDGF-A; PDGF-B; PDGF1; PDGF2; PDGFA; PDGFACP; PDGFB; Rpa1; SIS; SSV