actin gamma 2, smooth muscle
Última actualización 5 de jul de 2022
Cumple con las directrices editoriales
- DescargarDescargar
- Compartir
- Language
- Discusión
- Versión en audio
- Agregar a fuentes preferidas en Google
El ACTG2 gene provides instructions for making a protein called gamma (γ)-2 actin, which is part of the actin protein family. Actin proteins are organized into filaments, which are important for the tensing of muscle fibers (muscle contraction) and cell movement. These filaments also help maintain the cytoskeleton, which is the structural framework that determines cell shape and organizes cell contents.
Normal function
El ACTG2 gene provides instructions for making a protein called gamma (γ)-2 actin, which is part of the actin protein family. Actin proteins are organized into filaments, which are important for the tensing of muscle fibers (muscle contraction) and cell movement. These filaments also help maintain the cytoskeleton, which is the structural framework that determines cell shape and organizes cell contents.
The γ-2 actin protein is found in smooth muscle cells of the urinary and intestinal tracts. Smooth muscles line the internal organs; they contract and relax without being consciously controlled. The γ-2 actin protein is necessary for contraction of the smooth muscles in the bladder and intestines. These contractions empty urine from the bladder and move food through the intestines as part of the digestive process.
Conditions referring to this gene or chromosome
Otros nombres
ACT
ACTA3
ACTE
actin, gamma-enteric smooth muscle isoform 1 precursor
actin, gamma-enteric smooth muscle isoform 2 precursor
actin-like protein
ACTL3
ACTSG
alpha-actin-3
VSCM
Related patient information and medicines
Patient information leaflet
Antiespasmódicos
Antispasmodics are used to treat symptoms such as abdominal pain and cramps (spasms). They are most often used for symptoms of irritable bowel syndrome. What are antispasmodics. Antispasmodics are a group (class) of medicines that can help to control some symptoms that arise from the gut (intestines) - in particular, gut spasm. There are two main.
Patient information leaflet
Periostitis tibial
El término 'shin splints' refers to pain pain in the lower leg, specifically along the front of the leg between the knee and the ankle - the area known as the shin. The exact cause of shin splints is not certain but they tend to be as a result of overuse and typically occur in runners. Rest is the most important treatment. Shock-absorbent insoles in.
Patient information leaflet
Bloqueadores de los canales de calcio
Bloqueadores de los canales de calcio (sometimes called calcium antagonists) are a group of medicines that affect the way calcium passes into certain muscle cells. They are commonly prescribed to manage high blood pressure , angina , Raynaud's phenomenon and some abnormal heart rhythms (arrhythmias). They are also used to try to stop premature labour in.
Patient information leaflet
Neuralgia del trigémino
The trigeminal nerve carries sensation from your face to your brain. What is trigeminal neuralgia. Trigeminal neuralgia is a condition which causes sudden, severe facial pain. It is usually due to a problem affecting the trigeminal nerve. The trigeminal nerve (also called the fifth cranial nerve) is one of the main nerves of the face. There is one.
Patient information leaflet
Escáner PET
A PET scan create images which show where cells are particularly active in the body. It is most commonly used to diagnose and assess cancer. Note : the information below is a general guide only. The arrangements, and the way tests are performed, may vary between different hospitals. Always follow the instructions given by your doctor or local.
Patient information leaflet
Tratamiento para la diabetes tipo 2
Aunque diabetes puedes be cured, it can be tratado successfully. 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.
Lecturas adicionales y referencias
- actin gamma 2, smooth muscle; MedlinePlus, National Library of Medicine.
- Halim D, Hofstra RM, Signorile L, Verdijk RM, van der Werf CS, Sribudiani Y, Brouwer RW, van IJcken WF, Dahl N, Verheij JB, Baumann C, Kerner J, van Bever Y, Galjart N, Wijnen RM, Tibboel D, Burns AJ, Muller F, Brooks AS, Alves MM. ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. Hum Mol Genet. 2016 Feb 1;25(3):571-83. doi: 10.1093/hmg/ddv497. Epub 2015 Dec 8.
- Lehtonen HJ, Sipponen T, Tojkander S, Karikoski R, Jarvinen H, Laing NG, Lappalainen P, Aaltonen LA, Tuupanen S. Segregation of a missense variant in enteric smooth muscle actin gamma-2 with autosomal dominant familial visceral myopathy. Gastroenterology. 2012 Dec;143(6):1482-1491.e3. doi: 10.1053/j.gastro.2012.08.045. Epub 2012 Sep 6.
- Matera I, Rusmini M, Guo Y, Lerone M, Li J, Zhang J, Di Duca M, Nozza P, Mosconi M, Pini Prato A, Martucciello G, Barabino A, Morandi F, De Giorgio R, Stanghellini V, Ravazzolo R, Devoto M, Hakonarson H, Ceccherini I. Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction. Eur J Hum Genet. 2016 Aug;24(8):1211-5. doi: 10.1038/ejhg.2015.275. Epub 2016 Jan 27.
- Thorson W, Diaz-Horta O, Foster J 2nd, Spiliopoulos M, Quintero R, Farooq A, Blanton S, Tekin M. De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis. Hum Genet. 2014 Jun;133(6):737-42. doi: 10.1007/s00439-013-1406-0. Epub 2013 Dec 13.
- Wangler MF, Gonzaga-Jauregui C, Gambin T, Penney S, Moss T, Chopra A, Probst FJ, Xia F, Yang Y, Werlin S, Eglite I, Kornejeva L, Bacino CA, Baldridge D, Neul J, Lehman EL, Larson A, Beuten J, Muzny DM, Jhangiani S; Baylor-Hopkins Center for Mendelian Genomics; Gibbs RA, Lupski JR, Beaudet A. Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. PLoS Genet. 2014 Mar 27;10(3):e1004258. doi: 10.1371/journal.pgen.1004258. eCollection 2014 Mar.
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.