ankyrin 2
עודכן לאחרונה 18 Aug 2020
עומד בהנחיות העריכה של Patient
- הורדהורד
- שתף
- Language
- דיון
- גרסת שמע
- הוסף למקורות מועדפים בגוגל
ה 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
ה 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
Related patient information and medicines
Patient information leaflet
קדחת בלוטות
קדחת בלוטות (also known as infectious mononucleosis) is a viral infection that most often affects teenagers and young adults. Although it can make some people feel quite ill, full recovery is usual. What is glandular fever. קדחת בלוטות מטופל? a viral infection, mostly caused by the Epstein-Barr virus. The virus can be passed from person to.
Patient information leaflet
Find out if you are eligible for a free NHS flu vaccination
Open the flu jab Is the flu vaccine free for you this winter. The flu vaccine is free on the NHS for people most likely to get seriously ill from flu, and for those who could easily pass it on to someone at risk. Whether you qualify depends on your age, your health, and a few other things such as being pregnant or caring for someone. The groups.
Patient information leaflet
סוכרת סוג 2
Type 2 diabetes can occur at any age, including during childhood, but it occurs mainly in people aged over 40. The first-line treatment is diet, weight control and physical activity. Other treatments include reducing blood pressure if it is high, lowering high cholesterol levels, and also other me... This is called insulin resistance. You can.
Patient information leaflet
כאב גרון
A sore throat is common and usually goes after a few days. Simple treatments such as taking paracetamol and keeping hydrated can help ease pain. This leaflet explains the causes and treatment of sore throats. What is a sore throat. Sore throat is very common and is usually caused by an infection in the throat. A sore throat usually lasts about a.
Patient information leaflet
האם אני יכול לקחת תוספי ברזל וסדוקסיל יחד?
Taking iron supplements at the same time as Sedoxil (mexazolam) may reduce how much of the medication your body absorbs. Our Medicines Interaction Checker helps you check whether your prescriptions, over-the-counter medicines, and supplements are safe to take together. ...ational purposes only and should not be relied upon as a substitute for.
Patient information leaflet
טיפול בסוכרת סוג 2
If a high blood sugar level is brought down to a normal level, your symptoms will ease and your risk of long-term complications will be much lower. Managing type 2 diabetes Keeping your blood sugar (glucose) well controlled is key to reducing your risk of long-term complications such as heart, kidney or eye problems. You c... The rest of this.
קריאה נוספת והפניות
- 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.
הצטרפו לשיחה
שתפו את מחשבותיכם או חוויותיכם עם אחרים ב קהילות המטופלים שלנו.
שאלו, שתפו, התחברו.
עיין בדיונים, שאל שאלות ושתף חוויות במאות נושאים בריאותיים.
הירשמו לניוזלטר של פיישנט
המנה השבועית שלך של עצות בריאות ברורות ואמינות - נכתבה כדי לעזור לך להרגיש מעודכן, בטוח ובשליטה.
על ידי הרשמה אתה מקבל את שלנו מדיניות הפרטיות שלנו. באפשרותך לבטל את המנוי בכל עת. לעולם לא נמכור את הנתונים שלך.