PAX6

PAX6 is a gene that plays a significant role in the development of the eyes and other parts of the nervous system. This gene belongs to a family of genes known as the PAX family, which are critical for the formation of tissues and organs during embryonic development.

Function

The PAX6 gene provides instructions for making a protein that attaches (binds) to specific areas of DNA and helps control the activity of particular genes. On the basis of this action, the PAX6 protein is called a transcription factor. The PAX6 protein is involved in the formation of the eyes and the brain, as well as other parts of the body.

Mutations

Mutations in the PAX6 gene lead to a variety of eye conditions, including aniridia, a condition characterized by a partial or complete absence of the colored part of the eye (the iris). These mutations can also cause other eye abnormalities such as cataract and glaucoma.

Clinical significance

The PAX6 gene is of clinical significance because its mutations have been associated with a variety of eye conditions. Understanding the function and the effects of mutations in this gene can lead to better treatments for these conditions.

See also

• PAX genes
• Aniridia
• Cataract
• Glaucoma

References

PAX6 Resources
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