tropomyosin 2
עודכן לאחרונה 4 במאי 2023
עומד בהנחיות העריכה של Patient
- הורדהורד
- שתף
- Language
- דיון
- גרסת שמע
- הוסף למקורות מועדפים בגוגל
ה TPM2 gene provides instructions for making a protein called beta (β)-tropomyosin, which is part of the tropomyosin protein family. Tropomyosin proteins regulate the tensing of muscle fibers (muscle contraction) by controlling the binding of two muscle proteins, myosin and actin. In non-muscle cells, tropomyosin proteins play a role in controlling cell shape.
Normal function
ה TPM2 gene provides instructions for making a protein called beta (β)-tropomyosin, which is part of the tropomyosin protein family. Tropomyosin proteins regulate the tensing of muscle fibers (muscle contraction) by controlling the binding of two muscle proteins, myosin and actin. In non-muscle cells, tropomyosin proteins play a role in controlling cell shape.
β-tropomyosin is found primarily in skeletal muscles, which are the muscles used for movement. This protein helps regulate muscle contraction by interacting with other muscle proteins, particularly myosin and actin. These interactions are essential for stabilizing and maintaining structures called sarcomeres within muscle cells. Sarcomeres are the basic units of muscle contraction; they are made of proteins that generate the mechanical force needed for muscles to contract.
Conditions referring to this gene or chromosome
Other names
beta-tropomyosin
NEM4
TMSB
TPM2_HUMAN
tropomyosin 2 (beta)
tropomyosin beta chain
tropomyosin, skeletal muscle beta
tropomyosin-2
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. Glandular fever is 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
יחידות אצבע לסטרואידים מקומיים
Topical steroids are used for various skin conditions. The amount of topical steroid that you should apply is commonly measured by fingertip units. What are topical steroids. Topical steroids are creams, ointments and lotions which contain steroid drugs. Topical steroids work by reducing inflammation in the skin. They are used for various skin.
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 אתה check whether your prescriptions, over-the-counter medicines, and supplements are safe to take together. ...macist, or another qualified healthcare professional before making.
Patient information leaflet
סוכרת
There are two main types of סוכרת - type 1 diabetes and type 2 diabetes. Type 1 usually first develops in children or in young adults. Type 2 usually first develops in people over the age of 40 years and is often (though not always) associated with being overweight. However, type 2 diabetes is increasingly being diagnosed in children and in.
Patient information leaflet
האם אני יכול לקחת טטרציקלין וסידן יחד?
Why this happens This is a pharmacokinetic interaction involving absorption. Calcium is a multivalent cation that undergoes 'chelation' with tetracycline. They bind together to form an insoluble complex in the digestive tract that is too large to pass through the gut wall. Our Medicines Interaction Checker helps אתה check whether your.
קריאה נוספת והפניות
- tropomyosin 2; MedlinePlus, National Library of Medicine.
- Beck AE, McMillin MJ, Gildersleeve HI, Kezele PR, Shively KM, Carey JC, Regnier M, Bamshad MJ. Spectrum of mutations that cause distal arthrogryposis types 1 and 2B. Am J Med Genet A. 2013 Mar;161A(3):550-5. doi: 10.1002/ajmg.a.35809. Epub 2013 Feb 7.
- Clarke NF, Domazetovska A, Waddell L, Kornberg A, McLean C, North KN. Cap disease due to mutation of the beta-tropomyosin gene (TPM2). Neuromuscul Disord. 2009 May;19(5):348-51. doi: 10.1016/j.nmd.2009.03.003. Epub 2009 Apr 3.
- Donner K, Ollikainen M, Ridanpaa M, Christen HJ, Goebel HH, de Visser M, Pelin K, Wallgren-Pettersson C. Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy. Neuromuscul Disord. 2002 Feb;12(2):151-8. doi: 10.1016/s0960-8966(01)00252-8.
- Goebel HH. Cap disease uncapped. Neuromuscul Disord. 2007 Jun;17(6):429-32. doi: 10.1016/j.nmd.2007.03.011. Epub 2007 Apr 16. No abstract available.
- Lehtokari VL, Ceuterick-de Groote C, de Jonghe P, Marttila M, Laing NG, Pelin K, Wallgren-Pettersson C. Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2. Neuromuscul Disord. 2007 Jun;17(6):433-42. doi: 10.1016/j.nmd.2007.02.015. Epub 2007 Apr 16.
- Marttila M, Lemola E, Wallefeld W, Memo M, Donner K, Laing NG, Marston S, Gronholm M, Wallgren-Pettersson C. Abnormal actin binding of aberrant beta-tropomyosins is a molecular cause of muscle weakness in TPM2-related nemaline and cap myopathy. Biochem J. 2012 Feb 15;442(1):231-9. doi: 10.1042/BJ20111030.
- Monnier N, Lunardi J, Marty I, Mezin P, Labarre-Vila A, Dieterich K, Jouk PS. Absence of beta-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy. Neuromuscul Disord. 2009 Feb;19(2):118-23. doi: 10.1016/j.nmd.2008.11.009. Epub 2009 Jan 19.
- Ochala J. Thin filament proteins mutations associated with skeletal myopathies: defective regulation of muscle contraction. J Mol Med (Berl). 2008 Nov;86(11):1197-204. doi: 10.1007/s00109-008-0380-9. Epub 2008 Jun 24.
- Ohlsson M, Quijano-Roy S, Darin N, Brochier G, Lacene E, Avila-Smirnow D, Fardeau M, Oldfors A, Tajsharghi H. New morphologic and genetic findings in cap disease associated with beta-tropomyosin (TPM2) mutations. Neurology. 2008 Dec 2;71(23):1896-901. doi: 10.1212/01.wnl.0000336654.44814.b8.
- Sung SS, Brassington AM, Grannatt K, Rutherford A, Whitby FG, Krakowiak PA, Jorde LB, Carey JC, Bamshad M. Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. Am J Hum Genet. 2003 Mar;72(3):681-90. doi: 10.1086/368294.
- Tajsharghi H, Kimber E, Holmgren D, Tulinius M, Oldfors A. Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation. Neurology. 2007 Mar 6;68(10):772-5. doi: 10.1212/01.wnl.0000256339.40667.fb.
- Tajsharghi H, Ohlsson M, Lindberg C, Oldfors A. Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2). Arch Neurol. 2007 Sep;64(9):1334-8. doi: 10.1001/archneur.64.9.1334.
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.