ATPase Na+/K+ transporting subunit alpha 3
آخر تحديث 23 Apr 2024
يتوافق مع الإرشادات التحريرية
- تنزيلتنزيل
- مشاركة
- Language
- نقاش
- نسخة صوتية
- أضف إلى المصادر المفضلة على جوجل
The ATP1A3 gene provides instructions for making one part (the alpha-3 subunit) of a protein known as Na+/K+ ATPase or the sodium pump. This protein uses energy from a molecule called adenosine triphosphate (ATP) to transport charged atoms (ions) into and out of cells. Specifically, it pumps sodium ions (Na+) out of cells and potassium ions (K+) into cells.
Normal function
The ATP1A3 gene provides instructions for making one part (the alpha-3 subunit) of a protein known as Na+/K+ ATPase or the sodium pump. This protein uses energy from a molecule called adenosine triphosphate (ATP) to transport charged atoms (ions) into and out of cells. Specifically, it pumps sodium ions (Na+) out of cells and potassium ions (K+) into cells.
Na+/K+ ATPases that include the alpha-3 subunit are critical for normal function of nerve cells in the brain (neurons). The movement of sodium and potassium ions helps regulate the electrical activity of these cells and plays an important role in the signaling process that controls muscle movement. The activity of Na+/K+ ATPase also helps regulate cell size (volume).
Additionally, Na+/K+ ATPase helps regulate a process called neurotransmitter reuptake. Neurotransmitters are chemical messengers that transmit signals from one neuron to another. After a neurotransmitter has had its effect, it must be removed quickly from the space between the neurons. The reuptake of neurotransmitters is carefully controlled to ensure that signals are sent and received accurately throughout the nervous system.
Conditions referring to this gene or chromosome
Other names
AT1A3_HUMAN
ATPase, Na+/K+ transporting, alpha 3 polypeptide
Na+/K+ -ATPase alpha 3 subunit
Na+/K+ ATPase 3
sodium pump 3
sodium-potassium-ATPase, alpha 3 polypeptide
sodium/potassium-transporting ATPase alpha-3 chain
Related patient information and medicines

Patient information leaflet
ارتفاع ضغط الدم
ارتفاع ضغط الدم (فرط ضغط الدم) 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
هل يمكنني تناول ريفاروكسابان وتامسولوسين معًا؟
However, both medicines can occasionally cause dizziness or lightheadedness,... Taking them together might slightly increase the chance of feeling faint. Why this happens Rivaroxaban هو an anticoagulant (blood thinner) and tamsulosin is an alpha-blocker used for prostate symptoms. They are processed by different pathways in the liver and do not.

Patient information leaflet
دم في السائل المنوي
دم في السائل المنوي means there هو blood in the semen. Usually there are no other symptoms such as pain. In men under 40 years old it is usually harmless and resolves without any treatment. However, it can also be caused by a number of conditions that need investigations and treatment. How common is blood in semen. Blood in semen (haematospermia) is.

Patient information leaflet
هل يمكنني تناول لانسوبرازول وتامسولوسين معًا؟
There are no known significant interactions between... It is generally considered safe to take these two medicines together. Why this happens لانسوبرازول is a proton pump inhibitor (PPI) used to reduce stomach acid, and tamsulosin هو alpha-blocker used to help with urinary symptoms. They are processed by different pathways in the liver and do.

Patient information leaflet
سرطان الخصية
سرطان الخصية هو a cancer that arises from a testicle (testis). Around half of all cases occur in men aged under 35 but testicular cancer rarely occurs before puberty. It is the most common cancer in men aged 15-44 years. There are about 2,000 new cases in the UK each year. The common early symptom of testicular cancer is a painless lump that.

Patient information leaflet
الثلاسيميا
Thalassaemia is an inherited condition affecting the blood. . Thalassaemia is an inherited (genetic) condition affecting the blood. Depending on which type you have, thalassaemia may cause no illness at all, or may be a serious lifelong condition requiring treatment. Haemoglobin is made out of different parts. The main parts are called alpha.
قراءة إضافية ومراجع
- ATPase Na+/K+ transporting subunit alpha 3; MedlinePlus, National Library of Medicine.
- Blanco-Arias P, Einholm AP, Mamsa H, Concheiro C, Gutierrez-de-Teran H, Romero J, Toustrup-Jensen MS, Carracedo A, Jen JC, Vilsen B, Sobrido MJ. A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism. Hum Mol Genet. 2009 Jul 1;18(13):2370-7. doi: 10.1093/hmg/ddp170. Epub 2009 Apr 7.
- Brashear A, Dobyns WB, de Carvalho Aguiar P, Borg M, Frijns CJ, Gollamudi S, Green A, Guimaraes J, Haake BC, Klein C, Linazasoro G, Munchau A, Raymond D, Riley D, Saunders-Pullman R, Tijssen MA, Webb D, Zaremba J, Bressman SB, Ozelius LJ. The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene. Brain. 2007 Mar;130(Pt 3):828-35. doi: 10.1093/brain/awl340. Epub 2007 Feb 4.
- Brashear A, Sweadner KJ, Haq I, Napoli E, Ozelius L. ATP1A3-Related Disorder. 2008 Feb 7 [updated 2024 Dec 5]. 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/NBK1115/
- de Carvalho Aguiar P, Sweadner KJ, Penniston JT, Zaremba J, Liu L, Caton M, Linazasoro G, Borg M, Tijssen MA, Bressman SB, Dobyns WB, Brashear A, Ozelius LJ. Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. Neuron. 2004 Jul 22;43(2):169-75. doi: 10.1016/j.neuron.2004.06.028.
- Haq IU, Snively BM, Sweadner KJ, Suerken CK, Cook JF, Ozelius LJ, Miller C, McCall WV, Whitlow CT, Brashear A. Revising rapid-onset dystonia-parkinsonism: Broadening indications for ATP1A3 testing. Mov Disord. 2019 Oct;34(10):1528-1536. doi: 10.1002/mds.27801. Epub 2019 Jul 30.
- Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, Nicole S, de Vries B, Tiziano FD, Fontaine B, Walley NM, Heavin S, Panagiotakaki E; European Alternating Hemiplegia of Childhood (AHC) Genetics Consortium; Biobanca e Registro Clinico per l'Emiplegia Alternante (I.B.AHC) Consortium; European Network for Research on Alternating Hemiplegia (ENRAH) for Small and Medium-sized Enterpriese (SMEs) Consortium; Fiori S, Abiusi E, Di Pietro L, Sweney MT, Newcomb TM, Viollet L, Huff C, Jorde LB, Reyna SP, Murphy KJ, Shianna KV, Gumbs CE, Little L, Silver K, Ptacek LJ, Haan J, Ferrari MD, Bye AM, Herkes GK, Whitelaw CM, Webb D, Lynch BJ, Uldall P, King MD, Scheffer IE, Neri G, Arzimanoglou A, van den Maagdenberg AM, Sisodiya SM, Mikati MA, Goldstein DB. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat Genet. 2012 Sep;44(9):1030-4. doi: 10.1038/ng.2358. Epub 2012 Jul 29.
- Kamm C, Fogel W, Wachter T, Schweitzer K, Berg D, Kruger R, Freudenstein D, Gasser T. Novel ATP1A3 mutation in a sporadic RDP patient with minimal benefit from deep brain stimulation. Neurology. 2008 Apr 15;70(16 Pt 2):1501-3. doi: 10.1212/01.wnl.0000310431.41036.e0. No abstract available.
- Rodacker V, Toustrup-Jensen M, Vilsen B. Mutations Phe785Leu and Thr618Met in Na+,K+-ATPase, associated with familial rapid-onset dystonia parkinsonism, interfere with Na+ interaction by distinct mechanisms. J Biol Chem. 2006 Jul 7;281(27):18539-48. doi: 10.1074/jbc.M601780200. Epub 2006 Apr 21.
- Rosewich H, Thiele H, Ohlenbusch A, Maschke U, Altmuller J, Frommolt P, Zirn B, Ebinger F, Siemes H, Nurnberg P, Brockmann K, Gartner J. Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. Lancet Neurol. 2012 Sep;11(9):764-73. doi: 10.1016/S1474-4422(12)70182-5. Epub 2012 Jul 30.
- Zanotti-Fregonara P, Vidailhet M, Kas A, Ozelius LJ, Clot F, Hindie E, Ravasi L, Devaux JY, Roze E. [123I]-FP-CIT and [99mTc]-HMPAO single photon emission computed tomography in a new sporadic case of rapid-onset dystonia-parkinsonism. J Neurol Sci. 2008 Oct 15;273(1-2):148-51. doi: 10.1016/j.jns.2008.06.033. Epub 2008 Aug 3.
تاريخ المقال
المقال متاح أيضًا باللغة الإنجليزية, الألمانية, إسبانية, الفرنسية, إيطالي, البرتغالية, الهندية, العبرية, العربية ,، و السويدية.
23 Apr 2024 | أحدث إصدار
1 Apr 2024 | 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.