paired box 8
Last updated 18 Aug 2020
Meets Patient’s editorial guidelines
- DownloadDownload
- Share
- Language
- Discussion
- Audio Version
- Add to preferred sources on Google
The PAX8 gene belongs to a family of genes that play critical roles in the formation of tissues and organs during embryonic development. The PAX gene family is 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. By attaching to critical DNA regions, these proteins help control the activity of particular genes (gene expression). On the basis of this action, PAX proteins are called transcription factors.
Normal function
The PAX8 gene belongs to a family of genes that play critical roles in the formation of tissues and organs during embryonic development. The PAX gene family is 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. By attaching to critical DNA regions, these proteins help control the activity of particular genes (gene expression). On the basis of this action, PAX proteins are called transcription factors.
During embryonic development, the PAX8 protein is thought to activate genes involved in the formation of the kidney and the thyroid gland. The thyroid gland is a butterfly-shaped tissue in the lower neck. It releases hormones that play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). Following birth, the PAX8 protein regulates several genes involved in the production of thyroid hormones.
Conditions referring to this gene or chromosome
Other names
paired box gene 8
PAX8_HUMAN
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. If you have TB of the lung or voice box, anyone who comes into close and prolonged contact with you needs testing. You can read the leaflet which comes with the medicine packet for a list of possible side-effects. Household members and close regular contacts of a person with TB of the.
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
Cough medicines
Cough medicines are commonly bought to treat various types of coughs that occur when you have an upper respiratory tract infection (URTI). Cough medicines that you can buy are often divided into those for a dry or tickly cough, and those for a chesty cough. If you are buying these cough medicines from the supermarket, the box should clearly state.
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 by infection with a bacteria. The usual symptoms are a severe sore throat, pain or difficulty swallowing and a high temperature (fever). Breathing difficulties can occur. Prompt treatment is.
Further reading and references
- paired box 8; MedlinePlus, National Library of Medicine.
- Cheung L, Messina M, Gill A, Clarkson A, Learoyd D, Delbridge L, Wentworth J, Philips J, Clifton-Bligh R, Robinson BG. Detection of the PAX8-PPAR gamma fusion oncogene in both follicular thyroid carcinomas and adenomas. J Clin Endocrinol Metab. 2003 Jan;88(1):354-7. doi: 10.1210/jc.2002-021020.
- Grasberger H, Ringkananont U, Lefrancois P, Abramowicz M, Vassart G, Refetoff S. Thyroid transcription factor 1 rescues PAX8/p300 synergism impaired by a natural PAX8 paired domain mutation with dominant negative activity. Mol Endocrinol. 2005 Jul;19(7):1779-91. doi: 10.1210/me.2004-0426. Epub 2005 Feb 17.
- Komatsu M, Takahashi T, Takahashi I, Nakamura M, Takahashi I, Takada G. Thyroid dysgenesis caused by PAX8 mutation: the hypermutability with CpG dinucleotides at codon 31. J Pediatr. 2001 Oct;139(4):597-9. doi: 10.1067/mpd.2001.117071.
- Macchia PE, Lapi P, Krude H, Pirro MT, Missero C, Chiovato L, Souabni A, Baserga M, Tassi V, Pinchera A, Fenzi G, Gruters A, Busslinger M, Di Lauro R. PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. Nat Genet. 1998 May;19(1):83-6. doi: 10.1038/ng0598-83.
- Park SM, Chatterjee VK. Genetics of congenital hypothyroidism. J Med Genet. 2005 May;42(5):379-89. doi: 10.1136/jmg.2004.024158.
- Pasca di Magliano M, Di Lauro R, Zannini M. Pax8 has a key role in thyroid cell differentiation. Proc Natl Acad Sci U S A. 2000 Nov 21;97(24):13144-9. doi: 10.1073/pnas.240336397.
- Raman P, Koenig RJ. Pax-8-PPAR-gamma fusion protein in thyroid carcinoma. Nat Rev Endocrinol. 2014 Oct;10(10):616-23. doi: 10.1038/nrendo.2014.115. Epub 2014 Jul 29.
- Ramos HE, Carre A, Chevrier L, Szinnai G, Tron E, Cerqueira TL, Leger J, Cabrol S, Puel O, Queinnec C, De Roux N, Guillot L, Castanet M, Polak M. Extreme phenotypic variability of thyroid dysgenesis in six new cases of congenital hypothyroidism due to PAX8 gene loss-of-function mutations. Eur J Endocrinol. 2014 Oct;171(4):499-507. doi: 10.1530/EJE-13-1006.
- Tell G, Pellizzari L, Esposito G, Pucillo C, Macchia PE, Di Lauro R, Damante G. Structural defects of a Pax8 mutant that give rise to congenital hypothyroidism. Biochem J. 1999 Jul 1;341 ( Pt 1)(Pt 1):89-93.
- Vilain C, Rydlewski C, Duprez L, Heinrichs C, Abramowicz M, Malvaux P, Renneboog B, Parma J, Costagliola S, Vassart G. Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8. J Clin Endocrinol Metab. 2001 Jan;86(1):234-8. doi: 10.1210/jcem.86.1.7140.
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.