paired box 6
Last updated 9 Apr 2026
Meets Patient’s editorial guidelines
- DownloadDownload
- Share
- Language
- Discussion
- Audio Version
- Add to preferred sources on Google
The PAX6 gene belongs to a family of genes that play a critical role in the formation of tissues and organs before birth. PAX genes are also important for the normal function of certain cells after birth. To carry out these roles, the PAX genes provide instructions for making proteins that bind to specific areas of DNA and help control the activity (expression) of particular genes. Proteins that perform this role are called transcription factors.
Normal function
The PAX6 gene belongs to a family of genes that play a critical role in the formation of tissues and organs before birth. PAX genes are also important for the normal function of certain cells after birth. To carry out these roles, the PAX genes provide instructions for making proteins that bind to specific areas of DNA and help control the activity (expression) of particular genes. Proteins that perform this role are called transcription factors.
Before birth, the PAX6 protein regulates genes involved in the formation of the eyes, the brain and spinal cord (central nervous system), and the pancreas. Within the brain, the PAX6 protein is involved in the development of a specialized group of cells that process smell (the olfactory bulb). Additionally, the PAX6 protein controls many aspects of eye development. After birth, the PAX6 protein is found in many different eye structures where it regulates gene activity.
Conditions referring to this gene or chromosome
Other names
AN
AN2
D11S812E
Related patient information and medicines
Patient information leaflet
Travelling to remote locations
Personal first aid kit for a remote trip The following lists a comprehensive first aid kit for two people travelling together to a remote environment. It is based on the advice given i... Self-treatment is a last resort as it is very difficult for anyone to make treatment decisions about themselves. Reference book Pocket First Aid and Wilderness.
Patient information leaflet
Tuberculosis
If you or your family come from a country where TB is common. Environment and poverty: rates of TB are higher among homeless people, prisoners, in large cities and in more deprived areas. If you have TB of the lung or voice box, anyone who comes into close and prolonged contact with you needs testing. Household members and close regular contacts.
Patient information leaflet
Blepharospasm
Blepharospasm is a condition in which blinking or spasmodic closing of the eyes occurs at an increased rate. This leaflet is mainly about primary blepharospasm, also called benign essential blepharospasm (BEB). Primary blepharospasm, or benign ... Blepharospasm is thought to be due to abnormal functioning of the basal ganglia, a pair of 'junction.
Patient information leaflet
Fungal nail infection
Fungal infection of nails (tinea unguium) is common, particularly in toenails in the elderly. Tips on nail care with a fungal nail infection, with or without taking medication, include the following: Keeping the nails cut short and file down a... Using a separate pair of scissors to cut the infected nail(s) to prevent contaminating the other nails.
Patient information leaflet
Epiglottitis
Epiglottitis is the term used to describe inflammation and swelling of the epiglottis which lies just behind the root of the tongue. It is usually caused ... It is now extremely rare in children. See the separate leaflet called 6-in-1 Vaccine (Including DTaP, Polio, Hib and Hep B Immunisations for more details. Following the introduction of the.
Patient information leaflet
Find out if you are eligible for a free NHS flu vaccination
Open the flu jab Is the flu vaccine free for you this winter. The flu vaccine is free on the NHS for people most likely to get seriously ill from flu, and for those who could easily pass it on to someone at risk. Whether you qualify depends on your age, your health, and a few other things such as being pregnant or caring for someone. The groups.
Further reading and references
- paired box 6; MedlinePlus, National Library of Medicine.
- Chao LY, Huff V, Strong LC, Saunders GF. Mutation in the PAX6 gene in twenty patients with aniridia. Hum Mutat. 2000;15(4):332-9. doi: 10.1002/(SICI)1098-1004(200004)15:43.0.CO;2-1.
- Grainger RM, Lauderdale JD, Collins JL, Trout KL, McCullen Krantz S, Wolfe SS, Netland PA. Report on the 2021 Aniridia North America symposium on PAX6, aniridia, and beyond. Ocul Surf. 2023 Jul;29:423-431. doi: 10.1016/j.jtos.2023.05.010. Epub 2023 May 27.
- Hingorani M, Williamson KA, Moore AT, van Heyningen V. Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations. Invest Ophthalmol Vis Sci. 2009 Jun;50(6):2581-90. doi: 10.1167/iovs.08-2827. Epub 2009 Feb 14.
- Kit V, Cunha DL, Hagag AM, Moosajee M. Longitudinal genotype-phenotype analysis in 86 patients with PAX6-related aniridia. JCI Insight. 2021 Jul 22;6(14):e148406. doi: 10.1172/jci.insight.148406.
- Kit V, Oluonye N, Moosajee M. PAX6 Aniridia Syndrome. 2003 May 20 [updated 2026 Jun 2]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1360/
- Robinson DO, Howarth RJ, Williamson KA, van Heyningen V, Beal SJ, Crolla JA. Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia. Am J Med Genet A. 2008 Mar 1;146A(5):558-69. doi: 10.1002/ajmg.a.32209.
- Ticho BH, Hilchie-Schmidt C, Egel RT, Traboulsi EI, Howarth RJ, Robinson D. Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation. Ophthalmic Genet. 2006 Dec;27(4):145-9. doi: 10.1080/13816810600976897.
- Tzoulaki I, White IM, Hanson IM. PAX6 mutations: genotype-phenotype correlations. BMC Genet. 2005 May 26;6:27. doi: 10.1186/1471-2156-6-27.
- van Heyningen V, Williamson KA. PAX6 in sensory development. Hum Mol Genet. 2002 May 15;11(10):1161-7. doi: 10.1093/hmg/11.10.1161.
Join the conversation
Share your thoughts or experiences with others in our patient communities.
Ask, share, connect.
Browse discussions, ask questions, and share experiences across hundreds of health topics.
Sign up to the Patient newsletter
Your weekly dose of clear, trustworthy health advice - written to help you feel informed, confident and in control.
By subscribing you accept our Privacy Policy. You can unsubscribe at any time. We never sell your data.