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PDGFB

PDGFB

Reviewed September 2011

What is the official name of the PDGFB gene?

The official name of this gene is “platelet-derived growth factor beta polypeptide.”

PDGFB is the gene's official symbol. The PDGFB gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the PDGFB gene?

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 be able 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.

How are changes in the PDGFB gene related to health conditions?

dermatofibrosarcoma protuberans - associated with the PDGFB gene

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. Dermatofibrosarcoma protuberans is associated with a rearrangement (translocation) of genetic material between chromosomes 17 and 22. This translocation, written as t(17;22), fuses part of the PDGFB gene on chromosome 22 with part of another gene on chromosome 17 called COL1A1. The translocation is found on one or more extra chromosomes that can be either the normal linear shape or circular. The resulting combined (fusion) gene is called COL1A1-PDGFB.

The COL1A1-PDGFB fusion gene provides instructions for making a fusion protein. In the translocation, the PDGFB gene loses the part of its DNA that inhibits its activity, and production of the COL1A1-PDGFB fusion protein is controlled by COL1A1 gene sequences. As a result, the gene fusion leads to the production of large amounts of the fusion protein. The COL1A1-PDGFB protein forms a dimer and is processed like the normal PDGFB precursor protein. Processing removes the COL1A1 portion, which forms a protein that researchers believe functions like the active PDGF-BB protein. Excess PDGF-BB protein abnormally stimulates cells to proliferate and differentiate, leading to the tumor formation seen in dermatofibrosarcoma protuberans.

Where is the PDGFB gene located?

Cytogenetic Location: 22q13.1

Molecular Location on chromosome 22: base pairs 39,223,679 to 39,244,951

The PDGFB gene is located on the long (q) arm of chromosome 22 at position 13.1.

The PDGFB gene is located on the long (q) arm of chromosome 22 at position 13.1.

More precisely, the PDGFB gene is located from base pair 39,223,679 to base pair 39,244,951 on chromosome 22.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about PDGFB?

You and your healthcare professional may find the following resources about PDGFB helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the PDGFB gene or gene products?

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

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding PDGFB?

cancer ; cell ; cell proliferation ; chromosome ; differentiation ; dimer ; DNA ; fusion gene ; gene ; growth factor ; inherited ; mutation ; precursor ; proliferate ; proliferation ; protein ; rearrangement ; receptor ; somatic mutation ; subunit ; translocation ; tumor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (8 links)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: September 2011
Published: November 17, 2014