tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon
Última actualización 24 Mar 2026
Cumple con las directrices editoriales
- DescargarDescargar
- Compartir
- Language
- Discusión
- Versión en audio
- Agregar a fuentes preferidas en Google
The YWHAE gene provides instructions for making the 14-3-3 epsilon protein, which is part of the large 14-3-3 protein family. Proteins in this family attach (bind) to other proteins that are involved in cell signaling. Proteins in the 14-3-3 family either turn on (activate) or turn off (inactivate) these other proteins. The 14-3-3 proteins are also involved in processes such as the self-destruction of cells when they are no longer needed (apoptosis), the production of energy within cells, and the movement (transport) of proteins within cells.
Normal function
The YWHAE gene provides instructions for making the 14-3-3 epsilon protein, which is part of the large 14-3-3 protein family. Proteins in this family attach (bind) to other proteins that are involved in cell signaling. Proteins in the 14-3-3 family either turn on (activate) or turn off (inactivate) these other proteins. The 14-3-3 proteins are also involved in processes such as the self-destruction of cells when they are no longer needed (apoptosis), the production of energy within cells, and the movement (transport) of proteins within cells.
The 14-3-3 epsilon protein is active in tissues throughout the body, although research has focused on its role in the brain. In the brain, this protein helps direct the movement of nerve cells (neuronal migration) by binding to other proteins. It is thought that the 14-3-3 epsilon protein is critical for proper neuronal migration and normal brain development.
Conditions referring to this gene or chromosome
Otros nombres
14-3-3 epsilon
14-3-3E
HEL2
KCIP-1
MDCR
Related patient information and medicines
Patient information leaflet
Leucemia mieloide crónica
Treatment for the initial chronic phase The aim of treatment is to control the disease process, to ease any symptoms and to prevent (or delay) the progress... You may be advised to have one or more of the following treatments: Imatinib tablets. This medicine is known as a tyrosine kinase inhibitor. The chemical tyrosine kinase is made by the.
Patient information leaflet
Cáncer de boca
Epidermal growth factor receptor monoclonal antibody (EGFR mAb) is one form of targeted therapy. Cetuximab is an EGFR mAb. Tyrosine kinase inhibitors (TKIs) are another. Immunotherapy is treatment that aims to boost the body's own immune system to destroy the cancer cells. It is also sometimes called biological therapy: Recombinant interleukin.
Patient information leaflet
Alimentación saludable
As well as healthy eating, ejercicio físico regular is also very important for health and to avoid or reduce obesity. See also the separate leaflet called Exercise and Physical Activity. Food groups Your body needs energy to work normally and keep you alive. You obtain this energy from nutrients in the food that you eat - mostly, carbohydrates,.
Patient information leaflet
El sistema inmunológico
El inmune system is made up of non-specialised defences such as your skin (acting as a barrier) and strong acid stomach juices. However it also has some highly specialised defences which give you resistance to particular pathogens. Another name for this resistance is immunity. These defences are special white blood cells called lymphocytes. Other.
Patient information leaflet
Enzimas cardíacas
Enzimas cardíacas son substances released by the heart muscle when it is injured - for example, during a heart attack or a severe case of angina. A heart attack (myocardial infarction) can present in many ways, the most common of which is chest pain. Taking blood tests for heart enzymes can help medical professionals to diagnose a heart attack. What.
Patient information leaflet
Síndrome de realimentación
Refeeding syndrome was first described in Far East prisoners after the second world war when they developed heart failure after starting to eat again after a prolonged period of starvation. What is refeeding syndrome. Refeeding syndrome is a dangerous and life threatening shift of fluids and body salts (electrolytes) that can occur when.
Lecturas adicionales y referencias
- tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon; MedlinePlus, National Library of Medicine.
- Baker EK, Brewer CJ, Ferreira L, Schapiro M, Tenney J, Wied HM, Kline-Fath BM, Smolarek TA, Weaver KN, Hopkin RJ. Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller-Dieker syndrome. Am J Med Genet A. 2023 Feb;191(2):526-539. doi: 10.1002/ajmg.a.63057. Epub 2022 Nov 25.
- Denomme-Pichon AS, Collins SC, Bruel AL, Mikhaleva A, Wagner C, Vancollie VE, Thomas Q, Chevarin M, Weber M, Prada CE, Overs A, Palomares-Bralo M, Santos-Simarro F, Pacio-Miguez M, Busa T, Legius E, Bacino CA, Rosenfeld JA, Le Guyader G, Egloff M, Le Guillou X, Mencarelli MA, Renieri A, Grosso S, Levy J, Dozieres B, Desguerre I, Vitobello A, Duffourd Y, Lelliott CJ, Thauvin-Robinet C, Philippe C, Faivre L, Yalcin B. YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse. Genet Med. 2023 Jul;25(7):100835. doi: 10.1016/j.gim.2023.100835. Epub 2023 Mar 28.
- Jin DY, Lyu MS, Kozak CA, Jeang KT. Function of 14-3-3 proteins. Nature. 1996 Jul 25;382(6589):308. doi: 10.1038/382308a0. No abstract available.
- Nagamani SC, Zhang F, Shchelochkov OA, Bi W, Ou Z, Scaglia F, Probst FJ, Shinawi M, Eng C, Hunter JV, Sparagana S, Lagoe E, Fong CT, Pearson M, Doco-Fenzy M, Landais E, Mozelle M, Chinault AC, Patel A, Bacino CA, Sahoo T, Kang SH, Cheung SW, Lupski JR, Stankiewicz P. Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment. J Med Genet. 2009 Dec;46(12):825-33. doi: 10.1136/jmg.2009.067637. Epub 2009 Jul 6.
- Noor A, Bogatan S, Watkins N, Meschino WS, Stavropoulos DJ. Disruption of YWHAE gene at 17p13.3 causes learning disabilities and brain abnormalities. Clin Genet. 2018 Feb;93(2):365-367. doi: 10.1111/cge.13056. Epub 2017 Aug 31.
- Obsilova V, Obsil T. Structural insights into the functional roles of 14-3-3 proteins. Front Mol Biosci. 2022 Sep 16;9:1016071. doi: 10.3389/fmolb.2022.1016071. eCollection 2022.
- Ogihara T, Isobe T, Ichimura T, Taoka M, Funaki M, Sakoda H, Onishi Y, Inukai K, Anai M, Fukushima Y, Kikuchi M, Yazaki Y, Oka Y, Asano T. 14-3-3 protein binds to insulin receptor substrate-1, one of the binding sites of which is in the phosphotyrosine binding domain. J Biol Chem. 1997 Oct 3;272(40):25267-74. doi: 10.1074/jbc.272.40.25267.
- Tak H, Jang E, Kim SB, Park J, Suk J, Yoon YS, Ahn JK, Lee JH, Joe CO. 14-3-3epsilon inhibits MK5-mediated cell migration by disrupting F-actin polymerization. Cell Signal. 2007 Nov;19(11):2379-87. doi: 10.1016/j.cellsig.2007.07.016. Epub 2007 Jul 31.
- Toyo-oka K, Shionoya A, Gambello MJ, Cardoso C, Leventer R, Ward HL, Ayala R, Tsai LH, Dobyns W, Ledbetter D, Hirotsune S, Wynshaw-Boris A. 14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome. Nat Genet. 2003 Jul;34(3):274-85. doi: 10.1038/ng1169.
Únete a la conversación
Comparte tus pensamientos o experiencias con otros en nuestro comunidades de pacientes.
Pregunta, comparte, conecta.
Navega por discusiones, haz preguntas y comparte experiencias en cientos de temas de salud.
Suscríbete al boletín de Patient
Tu dosis semanal de consejos de salud claros y confiables, escritos para ayudarte a sentirte informado, seguro y en control.
Al suscribirte aceptas nuestros Política de Privacidad. Puedes darte de baja en cualquier momento. Nunca vendemos tus datos.