ankyrin repeat domain 11
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L 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
L 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
Altri nomi
ANCO-1
ANCO1
ankyrin repeat domain-containing protein 11
ankyrin repeat-containing cofactor 1
LZ16
nasopharyngeal carcinoma susceptibility protein
T13
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Ulteriori letture e riferimenti
- 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.
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