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 residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, res ...

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

gene In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...

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 blood v ...

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 Meningioma, also known as meningeal tumor, is typically a slow-growing tumor that forms from the meninges, the membranous layers surrounding the brain and spinal cord. Symptoms depend on the location and occur as a result of the tumor pressing ...

. 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 Fibroblastic and myofibroblastic tumors (FMTs) develop from the mesenchymal stem cells which differentiate into fibroblasts (the most common cell type in connective tissue) and/or the myocytes/ myoblasts that differentiate into muscle cells. ...

of the skin:

giant cell fibroblastoma Giant cell fibroblastoma (GCF) is a rare type of soft-tissue tumor marked by painless nodules in the dermis (the inner layer of the two main layers of tissue that make up the skin) and subcutaneous (beneath the skin) tissue. These tumors may c ...

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

Function

Clinical significance

See also

References

Further reading