sodium voltage-gated channel alpha subunit 4
آخر تحديث 5 Aug 2021
يتوافق مع الإرشادات التحريرية
- تنزيلتنزيل
- مشاركة
- Language
- نقاش
- نسخة صوتية
- أضف إلى المصادر المفضلة على جوجل
The SCN4A gene belongs to a family of genes that provide instructions for making sodium channels. These channels, which transport positively charged sodium atoms (sodium ions) into cells, play a key role in a cell's ability to generate and transmit electrical signals.
Normal function
The SCN4A gene belongs to a family of genes that provide instructions for making sodium channels. These channels, which transport positively charged sodium atoms (sodium ions) into cells, play a key role in a cell's ability to generate and transmit electrical signals.
The SCN4A gene provides instructions for making a critical part (the alpha subunit) of sodium channels that are abundant in muscles used for movement (skeletal muscles). For the body to move, these muscles must tense (contract) and relax in a coordinated way. Muscle contractions are triggered by the flow of ions, including sodium, into skeletal muscle cells. Channels made with the SCN4A protein control the flow of sodium ions into these cells.
Conditions referring to this gene or chromosome
Other names
Na(V)1.4
Nav1.4
SCN4A_HUMAN
skeletal muscle voltage-dependent sodium channel type IV alpha subunit
SkM1
sodium channel, voltage gated, type IV alpha subunit
sodium channel, voltage-gated, type IV, alpha
sodium channel, voltage-gated, type IV, alpha subunit
voltage-gated sodium channel type 4 alpha
Related patient information and medicines
Patient information leaflet
النظام الغذائي في مرض الكلى المزمن
مرض الكلى المزمن (CKD) is a common long-term condition where the kidneys aren't working as well as they should be. There are some dietary choices that are recommended for people with early CKD. People with more advanced CKD may be advised to follow a. It's important for everyone to have a healthy balanced diet, and this includes people with.
Patient information leaflet
مدرات البول الحافظة للبوتاسيوم
مدرات البول are medicines which increase the amount of fluid removed from the body when we pass urine. Potassium-sparing diuretics are one type of diuretic. They are weak diuretics usually prescribed in combination with other types of diuretics. They are used to increase the amount of fluid passed from the body in urine, whilst also preventing too.
Patient information leaflet
التليف الكيسي
Cystic fibrosis is an inherited disease which mainly affects the lungs and pancreas but can involve other organs. Symptoms usually begin in early childhood and include persistent cough, wheeze, repeated chest infections, difficulty digesting food and general ill health. Treatments include antibiotics, physiotherapy, medicines for thinning mucus,.
Patient information leaflet
هل يمكنني تناول المغنيسيوم والفليكاينيد معًا؟
In some cases, magnesium can actually be helpful for heart rhythm issues, but it must be balanced correctly. Why this happens Both magnesium and flecainide affect the electrical signals and mineral channels (like sodium and potassium) in your heart cells. While they don't usually stop each other from being absorbed, having too much or too little.
Patient information leaflet
ارتفاع ضغط الدم
High blood pressure (hypertension) happens when the force on the walls of blood vessels (caused by the blood within them) is more than normal. This means the heart has to work harder and the blood vessels are under more strain, making it a major risk factor for heart disease , stroke and other serious conditions. What is high blood pressure. High.
Patient information leaflet
نقص صوديوم الدم
Hyponatraemia is a low level of sodium in the blood. Sodium levels in the blood have to be tightly controlled. Various chemical messengers (hormones) and organs are involved in this process. For example, hormones involved include antidiuretic hormone and cortisol, and organs involved include the brain and kidneys. There is a very close.
قراءة إضافية ومراجع
- sodium voltage-gated channel alpha subunit 4; MedlinePlus, National Library of Medicine.
- Burge JA, Hanna MG. Novel insights into the pathomechanisms of skeletal muscle channelopathies. Curr Neurol Neurosci Rep. 2012 Feb;12(1):62-9. doi: 10.1007/s11910-011-0238-3.
- Carle T, Lhuillier L, Luce S, Sternberg D, Devuyst O, Fontaine B, Tabti N. Gating defects of a novel Na+ channel mutant causing hypokalemic periodic paralysis. Biochem Biophys Res Commun. 2006 Sep 22;348(2):653-61. doi: 10.1016/j.bbrc.2006.07.101. Epub 2006 Jul 28.
- Groome JR, Fujimoto E, Ruben PC. K-aggravated myotonia mutations at residue G1306 differentially alter deactivation gating of human skeletal muscle sodium channels. Cell Mol Neurobiol. 2005 Nov;25(7):1075-92. doi: 10.1007/s10571-005-8057-1.
- Jurkat-Rott K, Holzherr B, Fauler M, Lehmann-Horn F. Sodium channelopathies of skeletal muscle result from gain or loss of function. Pflugers Arch. 2010 Jul;460(2):239-48. doi: 10.1007/s00424-010-0814-4. Epub 2010 Mar 17.
- Jurkat-Rott K, Weber MA, Fauler M, Guo XH, Holzherr BD, Paczulla A, Nordsborg N, Joechle W, Lehmann-Horn F. K+-dependent paradoxical membrane depolarization and Na+ overload, major and reversible contributors to weakness by ion channel leaks. Proc Natl Acad Sci U S A. 2009 Mar 10;106(10):4036-41. doi: 10.1073/pnas.0811277106. Epub 2009 Feb 18.
- Maggi L, Bonanno S, Altamura C, Desaphy JF. Ion Channel Gene Mutations Causing Skeletal Muscle Disorders: Pathomechanisms and Opportunities for Therapy. Cells. 2021 Jun 16;10(6):1521. doi: 10.3390/cells10061521.
- Maggi L, Brugnoni R, Canioni E, Tonin P, Saletti V, Sola P, Piccinelli SC, Colleoni L, Ferrigno P, Pini A, Masson R, Manganelli F, Lietti D, Vercelli L, Ricci G, Bruno C, Tasca G, Pizzuti A, Padovani A, Fusco C, Pegoraro E, Ruggiero L, Ravaglia S, Siciliano G, Morandi L, Dubbioso R, Mongini T, Filosto M, Tramacere I, Mantegazza R, Bernasconi P. Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients. Front Neurol. 2020 Jul 29;11:646. doi: 10.3389/fneur.2020.00646. eCollection 2020.
- Miller TM, Dias da Silva MR, Miller HA, Kwiecinski H, Mendell JR, Tawil R, McManis P, Griggs RC, Angelini C, Servidei S, Petajan J, Dalakas MC, Ranum LP, Fu YH, Ptacek LJ. Correlating phenotype and genotype in the periodic paralyses. Neurology. 2004 Nov 9;63(9):1647-55. doi: 10.1212/01.wnl.0000143383.91137.00.
- Sun J, Luo S, Suetterlin KJ, Song J, Huang J, Zhu W, Xi J, Zhou L, Lu J, Lu J, Zhao C, Hanna MG, Mannikko R, Matthews E, Qiao K. Clinical and genetic spectrum of a Chinese cohort with SCN4A gene mutations. Neuromuscul Disord. 2021 Sep;31(9):829-838. doi: 10.1016/j.nmd.2021.03.014. Epub 2021 Apr 15.
- Tamaoka A. Paramyotonia congenita and skeletal sodium channelopathy. Intern Med. 2003 Sep;42(9):769-70. doi: 10.2169/internalmedicine.42.769. No abstract available.
- Tsujino A, Maertens C, Ohno K, Shen XM, Fukuda T, Harper CM, Cannon SC, Engel AG. Myasthenic syndrome caused by mutation of the SCN4A sodium channel. Proc Natl Acad Sci U S A. 2003 Jun 10;100(12):7377-82. doi: 10.1073/pnas.1230273100. Epub 2003 May 23.
- Vicart S, Sternberg D, Fontaine B, Meola G. Human skeletal muscle sodium channelopathies. Neurol Sci. 2005 Oct;26(4):194-202. doi: 10.1007/s10072-005-0461-x.
- Weber F, Lehmann-Horn F. Hypokalemic Periodic Paralysis. 2002 Apr 30 [updated 2018 Jul 26]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, 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/NBK1338/
- Weber F. Hyperkalemic Periodic Paralysis. 2003 Jul 18 [updated 2021 Jul 1]. 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/NBK1496/
تاريخ المقال
المقال متاح أيضًا باللغة الإنجليزية, الألمانية, إسبانية, الفرنسية, إيطالي, البرتغالية, الهندية, العبرية, العربية ,، و السويدية.
5 Aug 2021 | أحدث إصدار
1 Aug 2013 | نُشر في الأصل
انضم إلى المحادثة
شارك أفكارك أو تجاربك مع الآخرين في مجتمعات المرضى.
اسأل، شارك، تواصل.
تصفح المناقشات، اطرح الأسئلة، وشارك التجارب عبر مئات المواضيع الصحية.
اشترك في النشرة الإخبارية للمرضى
جرعتك الأسبوعية من النصائح الصحية الواضحة والموثوقة - مكتوبة لمساعدتك على الشعور بالاطلاع والثقة والتحكم.
من خلال الاشتراك، فإنك تقبل سياسة الخصوصية. يمكنك إلغاء الاشتراك في أي وقت. نحن لا نبيع بياناتك أبدًا.