Pax6
Pax6
Pax6 (/pæks sɪks/), also known as Paired Box 6, is a protein that in humans is encoded by the PAX6 gene. It is a transcription factor present in all animals and is involved in the development of the eyes and other parts of the nervous system.
Etymology
The term "Pax6" is derived from the Latin word 'pax', meaning 'peace', and the number '6', which refers to its position in the PAX family of transcription factors. The PAX family is named for their paired box domain, a region of the protein that binds to specific regions of DNA.
Function
Pax6 is a key regulatory gene of eye and neural development. It is expressed in the developing eye and central nervous system. Mutations in this gene are known to cause various ocular disorders such as aniridia and Peter's anomaly.
Related Terms
- Transcription factor: A protein that controls the rate of transcription of genetic information from DNA to messenger RNA.
- Aniridia: A rare congenital condition characterized by the underdevelopment or absence of the iris of the eye.
- Peter's anomaly: A rare congenital malformation of the eye involving the cornea, iris, and lens.
See Also
- PAX (gene family): A family of genes that play a key role in the regulation of embryonic development.
- DNA: The molecule that carries the genetic instructions for the development, functioning, growth, and reproduction of all known organisms and many viruses.
- RNA: A polymeric molecule essential in various biological roles in coding, decoding, regulation and expression of genes.
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