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Reviewed February 2013
What is the official name of the PDGFRB gene?
The official name of this gene is “platelet-derived growth factor receptor, beta polypeptide.”
PDGFRB is the gene's official symbol. The PDGFRB 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 PDGFRB gene?
The PDGFRB gene provides instructions for making a protein called platelet-derived growth factor receptor beta (PDGFRβ), which is part of a family of proteins called receptor tyrosine kinases. Receptor tyrosine kinases transmit signals from the cell surface into the cell through a process called signal transduction. The PDGFRβ protein is found in the cell membrane of certain cell types, where a protein called platelet-derived growth factor attaches (binds) to it. This binding turns on (activates) the PDGFRβ protein, which then activates other proteins inside the cell by adding a cluster of oxygen and phosphorus atoms (a phosphate group) at specific positions. This process, called phosphorylation, leads to the activation of a series of proteins in multiple signaling pathways.
The signaling pathways stimulated by the PDGFRβ protein control many important processes in the cell such as growth and division (proliferation), movement, and survival. PDGFRβ protein signaling is important for the development of many types of cells throughout the body.
Does the PDGFRB gene share characteristics with other genes?
The PDGFRB gene belongs to a family of genes called immunoglobulin superfamily, immunoglobulin-like domain containing (immunoglobulin superfamily, immunoglobulin-like domain containing). It also belongs to a family of genes called immunoglobulin superfamily, I-set domain containing (immunoglobulin superfamily, I-set domain containing).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.
How are changes in the PDGFRB gene related to health conditions?
Where is the PDGFRB gene located?
Cytogenetic Location: 5q33.1
Molecular Location on chromosome 5: base pairs 150,113,838 to 150,155,883
The PDGFRB gene is located on the long (q) arm of chromosome 5 at position 33.1.
More precisely, the PDGFRB gene is located from base pair 150,113,838 to base pair 150,155,883 on chromosome 5.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about PDGFRB?
You and your healthcare professional may find the following resources about PDGFRB 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 PDGFRB 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 PDGFRB?
acids ; calcification ; calcium ; cancer ; cell ; cell membrane ; chronic ; DNA ; eosinophils ; expressed ; familial ; fusion gene ; gene ; growth factor ; idiopathic ; leukemia ; ligand ; mast cells ; mutation ; neutrophils ; oxygen ; phosphate ; phosphorus ; phosphorylation ; population ; proliferation ; protein ; receptor ; signal transduction ; transduction ; tyrosine ; white blood cells
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (7 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.