ankyrin 2
Zuletzt aktualisiert 18. Aug 2020
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Der ANK2 gene provides instructions for making a protein called ankyrin-B. Ankyrin-B is part of a family of ankyrin proteins, which interact with many other types of proteins in cells throughout the body. Ankyrins help organize the cell's structural framework (the cytoskeleton) and link certain proteins that span the cell membrane to this framework. Additionally, ankyrins play key roles in important functions including cell movement (migration) and cell growth and division (proliferation).
Normal function
Der ANK2 gene provides instructions for making a protein called ankyrin-B. Ankyrin-B is part of a family of ankyrin proteins, which interact with many other types of proteins in cells throughout the body. Ankyrins help organize the cell's structural framework (the cytoskeleton) and link certain proteins that span the cell membrane to this framework. Additionally, ankyrins play key roles in important functions including cell movement (migration) and cell growth and division (proliferation).
The ankyrin-B protein is active in many cell types, particularly in the brain and in heart (cardiac) muscle. This protein mainly interacts with ion channels and ion transporters, which are complexes of proteins that move charged atoms (ions) across cell membranes. In the heart, the flow of ions (such as sodium, potassium, and calcium) through ion channels and ion transporters generates the electrical signals that control the heartbeat and maintain a normal heart rhythm. Ankyrin-B ensures these channels and transporters are in their proper locations in the cell membrane so they can regulate the flow of ions into and out of cardiac muscle cells. In addition, ankyrin-B helps ensure that signaling molecules that regulate the activity of ion channels and ion transporters are in the proper location.
Conditions referring to this gene or chromosome
Other names
ANK2_HUMAN
ankyrin 2, neuronal
ankyrin B
ankyrin, brain
ankyrin, nonerythroid
ankyrin-2, nonerythrocytic
brank-2
LQT4
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Weiterführende Lektüre und Referenzen
- ankyrin 2; MedlinePlus, National Library of Medicine.
- Chiang CE. Congenital and acquired long QT syndrome. Current concepts and management. Cardiol Rev. 2004 Jul-Aug;12(4):222-34. doi: 10.1097/01.crd.0000123842.42287.cf.
- Cunha SR, Mohler PJ. Obscurin targets ankyrin-B and protein phosphatase 2A to the cardiac M-line. J Biol Chem. 2008 Nov 14;283(46):31968-80. doi: 10.1074/jbc.M806050200. Epub 2008 Sep 9.
- Groffen AJ, Bikker H, Christiaans I. Long QT Syndrome Overview. 2003 Feb 20 [updated 2024 Mar 21]. 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/NBK1129/
- Mohler PJ, Bennett V. Ankyrin-based cardiac arrhythmias: a new class of channelopathies due to loss of cellular targeting. Curr Opin Cardiol. 2005 May;20(3):189-93. doi: 10.1097/01.hco.0000160372.95116.3e.
- Mohler PJ, Gramolini AO, Bennett V. Ankyrins. J Cell Sci. 2002 Apr 15;115(Pt 8):1565-6. doi: 10.1242/jcs.115.8.1565. No abstract available.
- Mohler PJ, Le Scouarnec S, Denjoy I, Lowe JS, Guicheney P, Caron L, Driskell IM, Schott JJ, Norris K, Leenhardt A, Kim RB, Escande D, Roden DM. Defining the cellular phenotype of "ankyrin-B syndrome" variants: human ANK2 variants associated with clinical phenotypes display a spectrum of activities in cardiomyocytes. Circulation. 2007 Jan 30;115(4):432-41. doi: 10.1161/CIRCULATIONAHA.106.656512. Epub 2007 Jan 22.
- Mohler PJ, Schott JJ, Gramolini AO, Dilly KW, Guatimosim S, duBell WH, Song LS, Haurogne K, Kyndt F, Ali ME, Rogers TB, Lederer WJ, Escande D, Le Marec H, Bennett V. Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. Nature. 2003 Feb 6;421(6923):634-9. doi: 10.1038/nature01335.
- Mohler PJ, Splawski I, Napolitano C, Bottelli G, Sharpe L, Timothy K, Priori SG, Keating MT, Bennett V. A cardiac arrhythmia syndrome caused by loss of ankyrin-B function. Proc Natl Acad Sci U S A. 2004 Jun 15;101(24):9137-42. doi: 10.1073/pnas.0402546101. Epub 2004 Jun 3.
- Sherman J, Tester DJ, Ackerman MJ. Targeted mutational analysis of ankyrin-B in 541 consecutive, unrelated patients referred for long QT syndrome genetic testing and 200 healthy subjects. Heart Rhythm. 2005 Nov;2(11):1218-23. doi: 10.1016/j.hrthm.2005.07.026.
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18. Aug 2020 | Neueste Version
1 Mar 2017 | Ursprünglich veröffentlicht
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