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Reviewed September 2015
What is the official name of the PAX8 gene?
The official name of this gene is “paired box 8.”
PAX8 is the gene's official symbol. The PAX8 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 PAX8 gene?
The PAX8 gene belongs to a family of genes that play critical roles 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, these proteins help control the activity of particular genes (gene expression). On the basis of this action, PAX proteins are called transcription factors.
During embryonic development, the PAX8 protein is thought to activate genes involved in the formation of the kidney and the thyroid gland. The thyroid gland is a butterfly-shaped tissue in the lower neck. It releases hormones that play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). Following birth, the PAX8 protein regulates several genes involved in the production of thyroid hormones.
Does the PAX8 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 PAX8 gene related to health conditions?
Where is the PAX8 gene located?
Cytogenetic Location: 2q13
Molecular Location on chromosome 2: base pairs 113,215,997 to 113,278,950
The PAX8 gene is located on the long (q) arm of chromosome 2 at position 13.
More precisely, the PAX8 gene is located from base pair 113,215,997 to base pair 113,278,950 on chromosome 2.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about PAX8?
You and your healthcare professional may find the following resources about PAX8 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 PAX8 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 PAX8?
acids ; benign ; cell ; cell division ; chromosome ; congenital ; DNA ; dysgenesis ; embryonic ; gene ; gene expression ; hormone ; hypothyroidism ; kidney ; metabolism ; mutation ; neoplasms ; protein ; thyroid ; thyroid hormones ; tissue ; transcription ; tumor
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.