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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?
Where is the PDGFB gene located?
Cytogenetic Location: 22q13.1
Molecular Location on chromosome 22: base pairs 39,223,680 to 39,244,952
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 39,223,680 to base pair 39,244,952 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?
See How are genetic conditions and genes named? in the Handbook.
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.