tropomyosin 3
Última actualización 4 de mayo de 2023
Cumple con las directrices editoriales
- DescargarDescargar
- Compartir
- Language
- Discusión
- Versión en audio
- Agregar a fuentes preferidas en Google
El TPM3 gene provides instructions for making a protein called slow muscle alpha (α)-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
El TPM3 gene provides instructions for making a protein called slow muscle alpha (α)-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.
Slow muscle α-tropomyosin is found in skeletal muscles, which are the muscles used for movement. Skeletal muscle is made up of two types of muscle fibers: type I (slow twitch fibers) and type II (fast twitch fibers). Slow muscle α-tropomyosin is found only in type I fibers. Type I fibers are the primary component of skeletal muscles that are resistant to fatigue. For example, muscles involved in posture, such as the neck muscles that hold the head steady, are made predominantly of type I fibers. Slow muscle α-tropomyosin helps regulate muscle contraction in type I skeletal muscle fibers.
Conditions referring to this gene or chromosome
Otros nombres
cytoskeletal tropomyosin TM30
FLJ41118
heat-stable cytoskeletal protein 30 kDa
hscp30
TM-5
TM3
TPM3_HUMAN
TRK
tropomyosin alpha-3 chain
tropomyosin gamma
Related patient information and medicines
Patient information leaflet
Sarampión
And, if necessary, you may be offered immediate immunisation or a protecting injection of antibody (immunoglobulin). This is called 'post-exposure prophylaxis'. See the guidelines from the UK Health Security Agency (UKHSA) cited at the end under 'Further Reading and References'. How do you diagnose measles. Your doctor will usually be able to.
Patient information leaflet
Úlceras venosas en las piernas
Úlceras venosas en las piernas son common en older people. The most important part of treatment is for compression bandages to be applied correctly by a nurse. Keep as active as possible but elevate your l... This may correct back pressure of blood pooling in the veins and allow an ulcer to heal. The topical haemoglobin spray (Granulox®) is a medical device to.
Patient information leaflet
Convertidor de HbA1c
Use this Convertidor de HbA1c to switch results between the mmol/mol units used in the UK and the percentage (%) units still used in some other countries and older test reports. HbA1c reflects your average blood glucose levels over the past 2–3 months and is commonly used to diagnose and monitor diabetes. Open the calculator. Convert HbA1c values You.
Patient information leaflet
enfermedad de Lyme
enfermedad de Lyme es un infecciones caused by being bitten by an infected tick. The first and most common symptom is a rash that spreads out from the site of the tick bite. Left untreated, the germs (bacteria) can spread to other areas of the body. In some cases this can cause serious symptoms - often months after the initial tick bite. A course of.
Patient information leaflet
Efluvio telógeno
Telogen effluvium (hair loss) is a condition where more than normal amounts of hair fall out. There is a general 'thinning' of the hair. Unlike some other hair and scalp conditions, it is temporary and the hair growth usually recovers. What is telogen effluvium. Telogen effluvium is rapid hair loss that is caused by stress or a change to your.
Patient information leaflet
Esteroides tópicos para el eccema
An alternative approach is to. Short-duration treatment to prevent flare-ups (weekend therapy) Some people have frequent flare-ups of eczema. For example, a flare-up may subside well with topical steroid therapy. Then, within a few weeks, a flare-up returns. In this situation, one option that might help is to apply steroid cream on the usual sites.
Lecturas adicionales y referencias
- tropomyosin 3; MedlinePlus, National Library of Medicine.
- Clarke NF, Kolski H, Dye DE, Lim E, Smith RL, Patel R, Fahey MC, Bellance R, Romero NB, Johnson ES, Labarre-Vila A, Monnier N, Laing NG, North KN. Mutations in TPM3 are a common cause of congenital fiber type disproportion. Ann Neurol. 2008 Mar;63(3):329-37. doi: 10.1002/ana.21308.
- De Paula AM, Franques J, Fernandez C, Monnier N, Lunardi J, Pellissier JF, Figarella-Branger D, Pouget J. A TPM3 mutation causing cap myopathy. Neuromuscul Disord. 2009 Oct;19(10):685-8. doi: 10.1016/j.nmd.2009.06.365. Epub 2009 Jun 23.
- Imoto C, Nonaka I. The significance of type 1 fiber atrophy (hypotrophy) in childhood neuromuscular disorders. Brain Dev. 2001 Aug;23(5):298-302. doi: 10.1016/s0387-7604(01)00213-3.
- Laing NG, Wilton SD, Akkari PA, Dorosz S, Boundy K, Kneebone C, Blumbergs P, White S, Watkins H, Love DR, et al. A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. Nat Genet. 1995 Jan;9(1):75-9. doi: 10.1038/ng0195-75.
- Lawlor MW, Dechene ET, Roumm E, Geggel AS, Moghadaszadeh B, Beggs AH. Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion. Hum Mutat. 2010 Feb;31(2):176-83. doi: 10.1002/humu.21157.
- Marttila M, Lehtokari VL, Marston S, Nyman TA, Barnerias C, Beggs AH, Bertini E, Ceyhan-Birsoy O, Cintas P, Gerard M, Gilbert-Dussardier B, Hogue JS, Longman C, Eymard B, Frydman M, Kang PB, Klinge L, Kolski H, Lochmuller H, Magy L, Manel V, Mayer M, Mercuri E, North KN, Peudenier-Robert S, Pihko H, Probst FJ, Reisin R, Stewart W, Taratuto AL, de Visser M, Wilichowski E, Winer J, Nowak K, Laing NG, Winder TL, Monnier N, Clarke NF, Pelin K, Gronholm M, Wallgren-Pettersson C. Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. Hum Mutat. 2014 Jul;35(7):779-90. doi: 10.1002/humu.22554. Epub 2014 May 1.
- 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.
- Waddell LB, Kreissl M, Kornberg A, Kennedy P, McLean C, Labarre-Vila A, Monnier N, North KN, Clarke NF. Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3. Neuromuscul Disord. 2010 Jul;20(7):464-6. doi: 10.1016/j.nmd.2010.05.012. Epub 2010 Jun 15.
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.