ankyrin repeat domain 11
Última actualización 1 Dec 2025
Cumple con las directrices editoriales
- DescargarDescargar
- Compartir
- Language
- Discusión
- Versión en audio
- Agregar a fuentes preferidas en Google
El ANKRD11 gene provides instructions for making a protein called ankyrin repeat domain 11 (ANKRD11). As its name suggests, this protein contains multiple regions called ankyrin domains; proteins with these domains help other proteins interact with each other. The ANKRD11 protein interacts with certain proteins called histone deacetylases, which are important for controlling gene activity. Through these interactions, ANKRD11 affects when genes are turned on and off. For example, ANKRD11 brings together histone deacetylases and other proteins called p160 coactivators. This association regulates the ability of p160 coactivators to turn on gene activity. ANKRD11 may also enhance the activity of a protein called p53, which controls the growth and division (proliferation) and the self-destruction (apoptosis) of cells.
Normal function
El ANKRD11 gene provides instructions for making a protein called ankyrin repeat domain 11 (ANKRD11). As its name suggests, this protein contains multiple regions called ankyrin domains; proteins with these domains help other proteins interact with each other. The ANKRD11 protein interacts with certain proteins called histone deacetylases, which are important for controlling gene activity. Through these interactions, ANKRD11 affects when genes are turned on and off. For example, ANKRD11 brings together histone deacetylases and other proteins called p160 coactivators. This association regulates the ability of p160 coactivators to turn on gene activity. ANKRD11 may also enhance the activity of a protein called p53, which controls the growth and division (proliferation) and the self-destruction (apoptosis) of cells.
The ANKRD11 protein is found in nerve cells (neurons) in the brain. During embryonic development, ANKRD11 helps regulate the proliferation of these cells and development of the brain. Researchers speculate that the protein may also be involved in the ability of neurons to change and adapt over time (plasticity), which is important for learning and memory. ANKRD11 may function in other cells in the body and appears to be involved in normal bone development.
Conditions referring to this gene or chromosome
Otros nombres
ANCO-1
ANCO1
ankyrin repeat domain-containing protein 11
ankyrin repeat-containing cofactor 1
LZ16
nasopharyngeal carcinoma susceptibility protein
T13
Related patient information and medicines
Patient information leaflet
Temblores
A temblor es un shaking or trembling in your body which you are unable to control. Anxiety Anxiety , like excitement, stimulates release of a hormone called adrenaline (epinephrine), the so-called 'fight or flight' hormone. Some people who are dependent on alcohol go through frequent... Parkinson's disease Tremor is one of the three 'key features'.
Patient information leaflet
Cálculos renales
Kidney stones are hard stones that can cause severe pain in tu lado along with blood in your urine, and nausea and vomiting. You are more likely to develop kidney stones if you eat a Western diet, don't drink enough fluids or are overweight. Once you have had one episode they are likely to recur but there are several kidney stone treatment.
Patient information leaflet
Hiperplasia endometrial
Hiperplasia endometrial es a thickening of the womb (uterus) lining. The womb lining is called the endometrium. Hyperplasia means over ("hyper" in Latin) growth ("plasia" in Latin). What is endometrial hyperplasia. Endometrial hyperplasia is a thickening of the endometrium which is the womb (uterus) lining. It can cause vaginal bleeding. It may.
Patient information leaflet
Verrugas genitales
verrugas anogenitales are sometimes just called genital warts. Genital warts are a common sexually transmitted infection. They are small lumps that develop around the genital area. They may not cause any symptoms but sometimes t... What are genital warts. Anogenital warts are small lumps that develop on the genitals and/or around the back passage.
Patient information leaflet
Enzimas cardíacas
Enzimas cardíacas son substances released by the heart muscle when it is lesionado - 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
Sabañones
Sabañones are small, itchy, painful lumps that develop on the skin as an abnormal response to cold. What are chilblains. Chilblains are lumps on the skin which come up as an abnormal reaction to the cold. They are usually red or purplish. They can be itchy or sore. Sometimes they come up when skin is warmed up too quickly after it has been cold..
Lecturas adicionales y referencias
- ankyrin repeat domain 11; MedlinePlus, National Library of Medicine.
- Gallagher D, Voronova A, Zander MA, Cancino GI, Bramall A, Krause MP, Abad C, Tekin M, Neilsen PM, Callen DF, Scherer SW, Keller GM, Kaplan DR, Walz K, Miller FD. Ankrd11 is a chromatin regulator involved in autism that is essential for neural development. Dev Cell. 2015 Jan 12;32(1):31-42. doi: 10.1016/j.devcel.2014.11.031. Epub 2014 Dec 31.
- Kim HJ, Cho E, Park JB, Im WY, Kim HJ. A Korean family with KBG syndrome identified by ANKRD11 mutation, and phenotypic comparison of ANKRD11 mutation and 16q24.3 microdeletion. Eur J Med Genet. 2015 Feb;58(2):86-94. doi: 10.1016/j.ejmg.2014.11.003. Epub 2014 Nov 20.
- Neilsen PM, Cheney KM, Li CW, Chen JD, Cawrse JE, Schulz RB, Powell JA, Kumar R, Callen DF. Identification of ANKRD11 as a p53 coactivator. J Cell Sci. 2008 Nov 1;121(Pt 21):3541-52. doi: 10.1242/jcs.026351. Epub 2008 Oct 7.
- Sacharow S, Li D, Fan YS, Tekin M. Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome. Am J Med Genet A. 2012 Mar;158A(3):547-52. doi: 10.1002/ajmg.a.34436. Epub 2012 Feb 3.
- Sirmaci A, Spiliopoulos M, Brancati F, Powell E, Duman D, Abrams A, Bademci G, Agolini E, Guo S, Konuk B, Kavaz A, Blanton S, Digilio MC, Dallapiccola B, Young J, Zuchner S, Tekin M. Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. Am J Hum Genet. 2011 Aug 12;89(2):289-94. doi: 10.1016/j.ajhg.2011.06.007. Epub 2011 Jul 21.
- Walz K, Cohen D, Neilsen PM, Foster J 2nd, Brancati F, Demir K, Fisher R, Moffat M, Verbeek NE, Bjorgo K, Lo Castro A, Curatolo P, Novelli G, Abad C, Lei C, Zhang L, Diaz-Horta O, Young JI, Callen DF, Tekin M. Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. Hum Genet. 2015 Feb;134(2):181-90. doi: 10.1007/s00439-014-1509-2. Epub 2014 Nov 21.
- Willemsen MH, Fernandez BA, Bacino CA, Gerkes E, de Brouwer AP, Pfundt R, Sikkema-Raddatz B, Scherer SW, Marshall CR, Potocki L, van Bokhoven H, Kleefstra T. Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome. Eur J Hum Genet. 2010 Apr;18(4):429-35. doi: 10.1038/ejhg.2009.192. Epub 2009 Nov 18.
- Zhang A, Yeung PL, Li CW, Tsai SC, Dinh GK, Wu X, Li H, Chen JD. Identification of a novel family of ankyrin repeats containing cofactors for p160 nuclear receptor coactivators. J Biol Chem. 2004 Aug 6;279(32):33799-805. doi: 10.1074/jbc.M403997200. Epub 2004 Jun 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.