PAX6
PAX6
PAX6 (pronunciation: paks-six) is a gene that plays a crucial role in the development of eyes and other parts of the nervous system. The term "PAX6" is derived from the term "Paired box gene 6".
Function
PAX6 is a member of the paired box (PAX) family of transcription factors. This gene plays a critical role in the development of the eyes and other sensory organs, parts of the brain, and the pancreas. Mutations in this gene have been associated with a variety of conditions, including aniridia, Peter's anomaly, keratitis, foveal hypoplasia, autism, and mental retardation.
Structure
The PAX6 gene is located on the eleventh chromosome (11p13). It is made up of 14 exons, which are portions of the gene that are expressed. The PAX6 protein contains two DNA-binding domains, a paired domain, and a paired-type homeodomain, as well as a proline, serine, and threonine-rich (PST) region.
Clinical significance
Mutations in the PAX6 gene can lead to a variety of conditions. The most common of these is aniridia, a condition characterized by a complete or partial absence of the iris. Other conditions associated with PAX6 mutations include Peter's anomaly, a rare congenital condition that can cause corneal opacity and other eye abnormalities; keratitis, an inflammation of the cornea; and foveal hypoplasia, a condition that affects the development of the fovea, a small pit in the retina that provides sharp central vision.
Related terms
External links
- Medical encyclopedia article on PAX6
- Wikipedia's article - PAX6
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