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PAX3
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PAX3Paired box gene 3 (Waardenburg syndrome 1) What is the normal function of the PAX3 gene?The PAX3 gene belongs to a family of 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 proteins made by the PAX gene family bind to specific areas of DNA and regulate the activity of other 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 and give rise to many tissues such as limb muscles, bones in the face and skull (craniofacial bones), certain nerve tissue, and pigment-producing cells called melanocytes. Melanocytes produce the pigment melanin, which contributes to hair, eye, and skin color, and they are also found in certain regions of the brain and inner ear. What conditions are related to the PAX3 gene?
Where is the PAX3 gene located?2q35-q37
The PAX3 gene is located on the long (q) arm of chromosome 2 between positions 35 and 37. See How do geneticists indicate the location of a gene? in the Handbook. Where can I find 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?adolescent ; amino acid ; cancer ; cell division ; chromosome ; craniofacial ; DNA ; domain ; embryo ; gene ; hypertelorism ; melanin ; melanocytes ; mutation ; neural crest cell ; pigment ; pigmentation ; protein ; rhabdomyosarcoma ; transcription ; transcription factor You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
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. |