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Reviewed September 2014
What is the official name of the PDGFRA gene?
The official name of this gene is “platelet-derived growth factor receptor, alpha polypeptide.”
PDGFRA is the gene's official symbol. The PDGFRA 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 PDGFRA gene?
The PDGFRA gene provides instructions for making a protein called platelet-derived growth factor receptor alpha (PDGFRA), which is part of a family of proteins called receptor tyrosine kinases (RTKs). Receptor tyrosine kinases transmit signals from the cell surface into the cell through a process called signal transduction. The PDGFRA protein is found in the cell membrane of certain cell types where a specific protein, called platelet-derived growth factor, attaches (binds) to it. This binding turns on (activates) the PDGFRA protein, which then activates other proteins inside the cell by adding a cluster of oxygen and phosphorus atoms (a phosphate group) at specific positions (a process called phosphorylation). This process leads to the activation of a series of proteins in multiple signaling pathways.
The signaling pathways stimulated by the PDGFRA protein control many important cellular processes such as cell growth and division (proliferation) and cell survival. PDGFRA protein signaling is important for the development of many types of cells throughout the body.
Does the PDGFRA gene share characteristics with other genes?
The PDGFRA gene belongs to a family of genes called CD (CD molecules). 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 PDGFRA gene related to health conditions?
Where is the PDGFRA gene located?
Cytogenetic Location: 4q12
Molecular Location on chromosome 4: base pairs 54,229,096 to 54,298,244
The PDGFRA gene is located on the long (q) arm of chromosome 4 at position 12.
More precisely, the PDGFRA gene is located from base pair 54,229,096 to base pair 54,298,244 on chromosome 4.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about PDGFRA?
You and your healthcare professional may find the following resources about PDGFRA 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 PDGFRA 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 PDGFRA?
benign ; cancer ; cell ; cell membrane ; cell proliferation ; chromosome ; chronic ; deletion ; DNA ; eosinophils ; familial ; fusion gene ; gastrointestinal ; gene ; growth factor ; inflammation ; inherited ; intestine ; leukemia ; ligand ; mutation ; oxygen ; phosphate ; phosphorus ; phosphorylation ; proliferation ; protein ; receptor ; signal transduction ; sporadic ; stomach ; tissue ; transduction ; tumor ; tyrosine
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (12 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.