词条 | PDGFB |
释义 |
FunctionThe 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 significanceMutations 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.[3] See also
References1. ^{{cite journal | vauthors = Ratner L, Josephs SF, Jarrett R, Reitz MS, Wong-Staal F | title = Nucleotide sequence of transforming human c-sis cDNA clones with homology to platelet-derived growth factor | journal = Nucleic Acids Res | volume = 13 | issue = 14 | pages = 5007–18 | date = Sep 1985 | pmid = 2991848 | pmc = 321845 | doi = 10.1093/nar/13.14.5007 }} 2. ^{{cite journal | vauthors = Clements JM, Bawden LJ, Bloxidge RE, Catlin G, Cook AL, Craig S, Drummond AH, Edwards RM, Fallon A, Green DR | title = Two PDGF-B chain residues, arginine 27 and isoleucine 30, mediate receptor binding and activation | journal = EMBO J | volume = 10 | issue = 13 | pages = 4113–20 | date = Jan 1992 | pmid = 1661670 | pmc = 453161 | doi = }} 3. ^{{cite web | title = Entrez Gene: PDGFB platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5155| accessdate = }} Further reading{{refbegin}}
1 : Growth factors |
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