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Reviewed June 2009
What is the official name of the PAX6 gene?
The official name of this gene is “paired box 6.”
PAX6 is the gene's official symbol. The PAX6 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 PAX6 gene?
The PAX6 gene belongs to a family of genes that play a critical role in the formation of tissues and organs during embryonic development. The members of the PAX gene family are 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 and help control the activity (expression) of particular genes. On the basis of this action, PAX proteins are called transcription factors.
During embryonic development, the PAX6 protein is thought to activate genes involved in the formation of the eyes, brain and spinal cord (central nervous system), and the pancreas. Within the brain, PAX6 is involved in the development of a specialized group of brain cells that process smell (the olfactory bulb). Researchers believe that the PAX6 protein controls many aspects of eye development. Following birth, the PAX6 protein is active in many structures of the eyes and likely regulates the expression of various genes.
Does the PAX6 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 PAX6 gene related to health conditions?
Genetics Home Reference provides information about these additional conditions, which are also associated with changes in the PAX6 gene:
Where is the PAX6 gene located?
Cytogenetic Location: 11p13
Molecular Location on chromosome 11: base pairs 31,806,339 to 31,839,508
The PAX6 gene is located on the short (p) arm of chromosome 11 at position 13.
More precisely, the PAX6 gene is located from base pair 31,806,339 to base pair 31,839,508 on chromosome 11.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about PAX6?
You and your healthcare professional may find the following resources about PAX6 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 PAX6 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 PAX6?
acids ; cell ; central nervous system ; chromosome ; cornea ; deletion ; DNA ; embryonic ; fovea ; gene ; inflammation ; involuntary ; keratitis ; mental retardation ; mutation ; nervous system ; nystagmus ; olfactory bulb ; pancreas ; protein ; regulatory regions ; syndrome ; transcription ; transcription factor ; tumor ; Wilms tumor
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (10 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.