External References:
Wikipedia
GeneCards
HUGO
COSMIC
Google Scholar
NCBI Description of PDGFB |
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 17, at sites where this gene and that for collagen type 1, alpha 1 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. |
Community Annotation of PDGFB Add / Edit PDGFB: Annotations
No community annotations yet for PDGFB.
|
Figure notes
• "Mouse over" a mutation to see details. |
|
Click on a tumor type to see its full list of significant genes.
Data details