paired box 2
עודכן לאחרונה 18 אפר 2023
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ה PAX2 gene belongs to a family of genes that plays a critical role in the formation of tissues and organs during embryonic development. The members of the PAX gene family are 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 and help control the activity (expression) of particular genes. On the basis of this action, PAX proteins are called transcription factors.
Normal function
ה PAX2 gene belongs to a family of genes that plays a critical role in the formation of tissues and organs during embryonic development. The members of the PAX gene family are 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 and help control the activity (expression) of particular genes. On the basis of this action, PAX proteins are called transcription factors.
During embryonic development, the PAX2 gene provides instructions for producing a protein that is involved in the formation of the eyes, ears, brain and spinal cord (central nervous system), kidneys, urinary tract, and genital tract. After birth, the PAX2 protein is thought to protect against cell death during periods of cellular stress.
Conditions referring to this gene or chromosome
Other names
paired box gene 2
paired box homeotic gene 2
paired box protein 2
Related patient information and medicines
Patient information leaflet
נסיעה למקומות מרוחקים
You will not be able to consult your GP by phone or email whilst travelling abroad, a... 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 in 'Pocket First Aid and Wilderness Medicine', a book written by two.
Patient information leaflet
בלפרוספזם
בלפרוספזם מטופל? 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
זיהום פטרייתי בציפורניים
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
שחפת
Environment and poverty: rates of TB are higher among homeless people, prisoners, in large cities and in more deprived areas. Do family, f... אם אתה סובלים מ TB of the lung or voice box, anyone who comes into close and prolonged contact with you needs testing. The usual tests available for contacts are a chest X-ray and/or tuberculin skin test.
Patient information leaflet
אפיגלוטיטיס
אפיגלוטיטיס 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.
Patient information leaflet
תרופות לשיעול
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.
קריאה נוספת והפניות
- paired box 2; MedlinePlus, National Library of Medicine.
- Amiel J, Audollent S, Joly D, Dureau P, Salomon R, Tellier AL, Auge J, Bouissou F, Antignac C, Gubler MC, Eccles MR, Munnich A, Vekemans M, Lyonnet S, Attie-Bitach T. PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism. Eur J Hum Genet. 2000 Nov;8(11):820-6. doi: 10.1038/sj.ejhg.5200539.
- Bower M, Salomon R, Allanson J, Antignac C, Benedicenti F, Benetti E, Binenbaum G, Jensen UB, Cochat P, DeCramer S, Dixon J, Drouin R, Falk MJ, Feret H, Gise R, Hunter A, Johnson K, Kumar R, Lavocat MP, Martin L, Moriniere V, Mowat D, Murer L, Nguyen HT, Peretz-Amit G, Pierce E, Place E, Rodig N, Salerno A, Sastry S, Sato T, Sayer JA, Schaafsma GC, Shoemaker L, Stockton DW, Tan WH, Tenconi R, Vanhille P, Vats A, Wang X, Warman B, Weleber RG, White SM, Wilson-Brackett C, Zand DJ, Eccles M, Schimmenti LA, Heidet L. Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database. Hum Mutat. 2012 Mar;33(3):457-66. doi: 10.1002/humu.22020. Epub 2012 Jan 31.
- Bower MA, Schimmenti LA, Eccles MR. PAX2-Related Disorder. 2007 Jun 8 [updated 2025 Aug 14]. 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/NBK1451/
- Capone VP, Morello W, Taroni F, Montini G. Genetics of Congenital Anomalies of the Kidney and Urinary Tract: The Current State of Play. Int J Mol Sci. 2017 Apr 11;18(4):796. doi: 10.3390/ijms18040796.
- Daniel L, Lechevallier E, Giorgi R, Sichez H, Zattara-Cannoni H, Figarella-Branger D, Coulange C. Pax-2 expression in adult renal tumors. Hum Pathol. 2001 Mar;32(3):282-7. doi: 10.1053/hupa.2001.22753.
- Eccles MR, He S, Legge M, Kumar R, Fox J, Zhou C, French M, Tsai RW. PAX genes in development and disease: the role of PAX2 in urogenital tract development. Int J Dev Biol. 2002;46(4):535-44.
- Galvez-Ruiz A, Lehner AJ, Galindo-Ferreiro A, Schatz P. Three New PAX2 Gene Mutations in Patients with Papillorenal Syndrome. Neuroophthalmology. 2017 May 8;41(5):271-278. doi: 10.1080/01658107.2017.1307995. eCollection 2017 Oct.
- Muratovska A, Zhou C, He S, Goodyer P, Eccles MR. Paired-Box genes are frequently expressed in cancer and often required for cancer cell survival. Oncogene. 2003 Sep 11;22(39):7989-97. doi: 10.1038/sj.onc.1206766.
- Schimmenti LA, Manligas GS, Sieving PA. Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome. Ophthalmic Genet. 2003 Dec;24(4):191-202. doi: 10.1076/opge.24.4.191.17229.
- Sharma R, Sanchez-Ferras O, Bouchard M. Pax genes in renal development, disease and regeneration. Semin Cell Dev Biol. 2015 Aug;44:97-106. doi: 10.1016/j.semcdb.2015.09.016. Epub 2015 Sep 26.
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