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Reviewed August 2012
What is the official name of the PAX3 gene?
The official name of this gene is “paired box 3.”
PAX3 is the gene's official symbol. The PAX3 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 PAX3 gene?
The PAX3 gene belongs to a family of PAX genes that plays a critical role in the formation of tissues and organs during embryonic development. The PAX gene family is also important for maintaining the normal function of certain cells after birth. To carry out these roles, the PAX genes provide instructions for making proteins that attach to specific areas of DNA. By attaching to critical DNA regions, PAX proteins help control the activity of particular genes. On the basis of this action, PAX proteins are called transcription factors.
During embryonic development, the PAX3 gene is active in cells called neural crest cells. These cells migrate from the developing spinal cord to specific regions in the embryo. The protein made from the PAX3 gene directs the activity of other genes that signal neural crest cells to form specialized tissues or cell types such as some nerve tissue, bones in the face and skull (craniofacial bones), and pigment-producing cells called melanocytes. Melanocytes produce the pigment melanin, which contributes to hair, eye, and skin color. Melanocytes are also found in certain regions of the brain and inner ear. The PAX3 protein is also necessary for the formation of muscle tissue (myogenesis) early in development.
Does the PAX3 gene share characteristics with other genes?
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 PAX3 gene related to health conditions?
Where is the PAX3 gene located?
Cytogenetic Location: 2q35
Molecular Location on chromosome 2: base pairs 222,199,886 to 222,321,262
The PAX3 gene is located on the long (q) arm of chromosome 2 at position 35.
More precisely, the PAX3 gene is located from base pair 222,199,886 to base pair 222,321,262 on chromosome 2.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about PAX3?
You and your healthcare professional may find the following resources about PAX3 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 PAX3 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 PAX3?
acids ; amino acid ; asparagine ; cancer ; cell ; chromosome ; craniofacial ; DNA ; domain ; embryo ; embryonic ; fusion gene ; gene ; lysine ; melanin ; melanocytes ; muscle cell ; mutation ; neural crest ; pigment ; pigmentation ; protein ; rearrangement ; rhabdomyosarcoma ; syndrome ; tissue ; transcription
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.