chromodomain helicase DNA binding protein 2
Última actualización 18 Aug 2020
Cumple con las directrices editoriales
- DescargarDescargar
- Compartir
- Language
- Discusión
- Versión en audio
- Agregar a fuentes preferidas en Google
El CHD2 gene provides instructions for making a protein called chromodomain DNA helicase protein 2. This protein is found in cells throughout the body and regulates gene activity (expression) through a process known as chromatin remodeling. Chromatin is the complex of DNA and proteins that packages DNA into chromosomes. The structure of chromatin can be changed (remodeled) to alter how tightly DNA is packaged. When DNA is tightly packed, gene expression is lower than when DNA is loosely packed. Chromodomain DNA helicase protein 2 appears to play an important role in the brain, although its function is not well understood. Research suggests that it may help control development or functioning of nerve cells (neurons).
Normal function
El CHD2 gene provides instructions for making a protein called chromodomain DNA helicase protein 2. This protein is found in cells throughout the body and regulates gene activity (expression) through a process known as chromatin remodeling. Chromatin is the complex of DNA and proteins that packages DNA into chromosomes. The structure of chromatin can be changed (remodeled) to alter how tightly DNA is packaged. When DNA is tightly packed, gene expression is lower than when DNA is loosely packed. Chromodomain DNA helicase protein 2 appears to play an important role in the brain, although its function is not well understood. Research suggests that it may help control development or functioning of nerve cells (neurons).
Conditions referring to this gene or chromosome
Otros nombres
ATP-dependent helicase CHD2
CHD-2
EEOC
FLJ38614
Related patient information and medicines
Patient information leaflet
Pruebas genéticas
Genético testing is a type of medical test that identifies changes in chromosomes, genes or proteins. Genetic tests examine a person's DNA in a variety of ways to assess a person's genetic health. They are all designed to identify a particular gene that may cause a genetic disorder. We all have 46 chromosomes in our cells. Chromosomes are made from.
Patient information leaflet
El sistema inmunológico
These diseases are managed by the specialist who knows most about the system affected for that person - eg, multiple sclerosis is managed by a neurologist. What is the immune system. We are surrounded by millions of bacteria, viruses and other germs (microbes) that have the potential to enter our bodies and cause harm. The immune system is the.
Patient information leaflet
Distrofia muscular
Hay different types of muscular dystrophy, which vary as to how severe they are, ranging from very mild to severe. The different types also vary as to what age they begin. If muscular dystrophy is suspected, tests can help to make an accurate diagnosis. Wha... The cause is an abnormal or 'faulty' gene. Genes are made from a biological.
Patient information leaflet
Deficiencia de alfa-1 antitripsina
Symptoms can worsen over time. Treatment aims at slowing down the progression of the disease. What is alpha-1 antitrypsin. Alpha-1 antitrypsin (A1AT) is a protein made by cells in the liver. It passes from the liver into the bloodstream and can travel to the lungs. Its main function is to protect the lungs from damage caused by other types of.
Patient information leaflet
Deficiencia en la visión del color
Color visión deficiency, also called colour blindness, is when you are unable to see certain colours. The most common form of the condition is red-green colour vision deficiency. What is colour vision deficiency. Colour vision deficiency, or colour blindness, is when you have difficulty seeing or telling the difference between certain colours..
Patient information leaflet
Hemofilia
El blood contains substances called clotting factors that work with platelets to form a clot. When you injure yourself the clot stops you bleeding. Haemophilia is a condition where there is a deficiency of clotting factors, so people with this condition usually have prolonged bleeding. There is no cure but with available treatments most people.
Lecturas adicionales y referencias
- chromodomain helicase DNA binding protein 2; MedlinePlus, National Library of Medicine.
- O'Roak BJ, Stessman HA, Boyle EA, Witherspoon KT, Martin B, Lee C, Vives L, Baker C, Hiatt JB, Nickerson DA, Bernier R, Shendure J, Eichler EE. Recurrent de novo mutations implicate novel genes underlying simplex autism risk. Nat Commun. 2014 Nov 24;5:5595. doi: 10.1038/ncomms6595.
- Pinto D, Delaby E, Merico D, Barbosa M, Merikangas A, Klei L, Thiruvahindrapuram B, Xu X, Ziman R, Wang Z, Vorstman JA, Thompson A, Regan R, Pilorge M, Pellecchia G, Pagnamenta AT, Oliveira B, Marshall CR, Magalhaes TR, Lowe JK, Howe JL, Griswold AJ, Gilbert J, Duketis E, Dombroski BA, De Jonge MV, Cuccaro M, Crawford EL, Correia CT, Conroy J, Conceicao IC, Chiocchetti AG, Casey JP, Cai G, Cabrol C, Bolshakova N, Bacchelli E, Anney R, Gallinger S, Cotterchio M, Casey G, Zwaigenbaum L, Wittemeyer K, Wing K, Wallace S, van Engeland H, Tryfon A, Thomson S, Soorya L, Roge B, Roberts W, Poustka F, Mouga S, Minshew N, McInnes LA, McGrew SG, Lord C, Leboyer M, Le Couteur AS, Kolevzon A, Jimenez Gonzalez P, Jacob S, Holt R, Guter S, Green J, Green A, Gillberg C, Fernandez BA, Duque F, Delorme R, Dawson G, Chaste P, Cafe C, Brennan S, Bourgeron T, Bolton PF, Bolte S, Bernier R, Baird G, Bailey AJ, Anagnostou E, Almeida J, Wijsman EM, Vieland VJ, Vicente AM, Schellenberg GD, Pericak-Vance M, Paterson AD, Parr JR, Oliveira G, Nurnberger JI, Monaco AP, Maestrini E, Klauck SM, Hakonarson H, Haines JL, Geschwind DH, Freitag CM, Folstein SE, Ennis S, Coon H, Battaglia A, Szatmari P, Sutcliffe JS, Hallmayer J, Gill M, Cook EH, Buxbaum JD, Devlin B, Gallagher L, Betancur C, Scherer SW. Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Am J Hum Genet. 2014 May 1;94(5):677-94. doi: 10.1016/j.ajhg.2014.03.018. Epub 2014 Apr 24.
- Suls A, Jaehn JA, Kecskes A, Weber Y, Weckhuysen S, Craiu DC, Siekierska A, Djemie T, Afrikanova T, Gormley P, von Spiczak S, Kluger G, Iliescu CM, Talvik T, Talvik I, Meral C, Caglayan HS, Giraldez BG, Serratosa J, Lemke JR, Hoffman-Zacharska D, Szczepanik E, Barisic N, Komarek V, Hjalgrim H, Moller RS, Linnankivi T, Dimova P, Striano P, Zara F, Marini C, Guerrini R, Depienne C, Baulac S, Kuhlenbaumer G, Crawford AD, Lehesjoki AE, de Witte PA, Palotie A, Lerche H, Esguerra CV, De Jonghe P, Helbig I; EuroEPINOMICS RES Consortium. De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. Am J Hum Genet. 2013 Nov 7;93(5):967-75. doi: 10.1016/j.ajhg.2013.09.017. Epub 2013 Oct 24.
- Thomas RH, Zhang LM, Carvill GL, Archer JS, Heavin SB, Mandelstam SA, Craiu D, Berkovic SF, Gill DS, Mefford HC, Scheffer IE; EuroEPINOMICS RES Consortium. CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures. Neurology. 2015 Mar 3;84(9):951-8. doi: 10.1212/WNL.0000000000001305. Epub 2015 Feb 11.
- Trivisano M, Striano P, Sartorelli J, Giordano L, Traverso M, Accorsi P, Cappelletti S, Claps DJ, Vigevano F, Zara F, Specchio N. CHD2 mutations are a rare cause of generalized epilepsy with myoclonic-atonic seizures. Epilepsy Behav. 2015 Oct;51:53-6. doi: 10.1016/j.yebeh.2015.06.029. Epub 2015 Aug 7.
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.