Platelet-derived growth factor subunit B is a

protein Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...

that in humans is encoded by the ''PDGFB''

gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...

Function

The protein encoded by this gene is a member of the

platelet-derived growth factor Platelet-derived growth factor (PDGF) is one among numerous growth factors that regulate cell growth and division. In particular, PDGF plays a significant role in blood vessel formation, the growth of blood vessels from already-existing bloo ...

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 the ''PDGFB'' and '' COL1A1'' genes are respectively located or, alternatively, an abnormal small supernumerary ring chromosome merge these two genes to form a ''COL1A''-''PDGFB'' fusion gene. This fusion gene greatly overproduces PDGFB and is considered responsible for causing the development and/or progression of three closely related fibroblastic and myofibroblastic tumors of the skin: giant cell fibroblastoma,

dermatofibrosarcoma protuberans Dermatofibrosarcoma protuberans (DFSP) is a rare locally aggressive malignant cutaneous soft-tissue sarcoma. DFSP develops in the connective tissue cells in the middle layer of the skin (dermis). Estimates of the overall occurrence of DFSP in the U ...

, and dermatofibrosarcoma protuberans, sarcomatous. Two splice variants have been identified for the ''PDGFB'' gene.

Function

Clinical significance

See also

References

Further reading