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PDGFB gene

Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

PDGFB gene

The PDGFB gene provides instructions for making a protein involved in essential cellular processes, and its mutation is linked to specific rare cancers.

Normal Function

The PDGFB gene provides instructions for making one version (isoform) of the platelet derived growth factor (PDGF) protein. This protein is involved in many cellular processes, including cell growth and division (proliferation), maturation (differentiation), and movement.

The PDGFB gene provides instructions for a precursor protein that must be processed to perform its function. Before processing, the precursor PDGFB protein attaches (binds) to another PDGFB protein or a similar protein called the PDGFA precursor protein, forming a structure known as a dimer. Once the dimer is formed, the precursor proteins are processed by being cut at specific locations, which forms the functional (active) PDGF proteins, called PDGF-BB and PDGF-AB.

The active PDGF-BB or PDGF-AB protein binds to a PDGF receptor, which initiates cellular signaling. PDGF signaling activates many pathways important in cell proliferation, differentiation, and movement.

Health Conditions Related to Genetic Changes

Dermatofibrosarcoma protuberans

Dermatofibrosarcoma protuberans, a rare type of cancer that causes a tumor in the deep layers of skin, is characterized by a somatic mutation involving the PDGFB gene. Somatic mutations are not inherited, but are acquired during a person's lifetime and are present only in certain cells.

  • Genetic Mechanism: This condition is associated with a rearrangement (translocation) of genetic material between chromosomes 17 and 22, written as t(17;22). This fuses part of the PDGFB gene on chromosome 22 with part of another gene on chromosome 17 called COL1A1.
  • Fusion Gene: The resulting combined gene, COL1A1-PDGFB, leads to the production of large amounts of a fusion protein.
  • Tumor Formation: Processing of this fusion protein creates a substance that functions like the active PDGF-BB protein. Excess PDGF-BB protein abnormally stimulates cells to proliferate and differentiate, leading to tumor formation.

Primary familial brain calcification

MedlinePlus Genetics provides information about Primary familial brain calcification.

Other Names for This Gene

  • becaplermin
  • c-sis
  • FLJ12858
  • PDGF subunit B
  • PDGF, B chain
  • PDGF-2
  • PDGF2
  • platelet-derived growth factor 2
  • platelet-derived growth factor beta polypeptide
  • platelet-derived growth factor subunit B
  • platelet-derived growth factor, B chain
  • SIS
  • SSV

Frequently Asked Questions

Most slowly enlarging, firm skin nodules are benign, but DFSP often presents as a painless, firm plaque or nodule that can be mistaken for a scar or cyst. A definitive diagnosis requires a biopsy with immunohistochemistry for CD34 and molecular testing for the COL1A1‑PDGFB fusion. If you notice a persistent or changing skin lesion, especially on the trunk or limbs, have it evaluated promptly.
Request a fluorescence in‑situ hybridization (FISH) or next‑generation sequencing panel that looks for the t(17;22)(q22;q13) translocation creating the COL1A1‑PDGFB fusion. Detecting this fusion confirms DFSP and can guide targeted therapy with imatinib if surgery is not feasible.
Yes. Imatinib, a tyrosine‑kinase inhibitor, is FDA‑approved for unresectable, recurrent, or metastatic DFSP that harbors the PDGFB fusion. Many patients experience tumor shrinkage, making later surgery easier or sometimes avoiding it altogether.
No. The COL1A1‑PDGFB fusion in DFSP is a somatic change that occurs only in the tumor cells and is not passed to offspring. There is no known hereditary form of DFSP linked to PDGFB, so family members do not need genetic testing solely based on your diagnosis.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.