PDGFB

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External IDs	GeneCards: [1]
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	Wikidata
View/Edit Human

Platelet-derived growth factor subunit B is a protein that in humans is encoded by the PDGFB gene.^[1]^[2]

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.^[3]

References

↑ Ratner L, Josephs SF, Jarrett R, Reitz MS, Wong-Staal F (Sep 1985). "Nucleotide sequence of transforming human c-sis cDNA clones with homology to platelet-derived growth factor". Nucleic Acids Res. 13 (14): 5007–18. doi:10.1093/nar/13.14.5007. PMC 321845. PMID 2991848.
↑ Clements JM, Bawden LJ, Bloxidge RE, Catlin G, Cook AL, Craig S, Drummond AH, Edwards RM, Fallon A, Green DR (Jan 1992). "Two PDGF-B chain residues, arginine 27 and isoleucine 30, mediate receptor binding and activation". EMBO J. 10 (13): 4113–20. PMC 453161. PMID 1661670.
↑ "Entrez Gene: PDGFB platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)".

PDGFB

Contents

Function

Clinical significance

See also

References

Further reading

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