ATPase Na+/K+ transporting subunit alpha 2
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El ATP1A2 gene provides instructions for making one part (the alpha-2 subunit) of a protein known as a Na+/K+ ATPase. 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
El ATP1A2 gene provides instructions for making one part (the alpha-2 subunit) of a protein known as a Na+/K+ ATPase. 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-2 subunit are primarily found in nervous system cells called glia, which protect and maintain nerve cells (neurons). Through its action in glia, the protein plays a critical role in the normal function of neurons. Communication between neurons depends on chemicals called neurotransmitters. To relay signals, a neuron releases neurotransmitters, which attach to receptor proteins on neighboring neurons. After the neurotransmitters have had their effect, they detach from their receptors and are removed from the spaces between neurons by glia. This process is carefully regulated to ensure that signals are transmitted accurately throughout the nervous system. The Na+/K+ ATPase helps regulate this process by stimulating glia to clear neurotransmitters from the spaces between neurons. This protein also removes excess potassium ions from these spaces.
Conditions referring to this gene or chromosome
Otros nombres
AT1A2_HUMAN
ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide
ATPase, Na+/K+ transporting, alpha 2 polypeptide
FHM2
MHP2
Na+/K+ -ATPase alpha 2 subunit proprotein
Na+/K+ ATPase 2
Na+/K+ ATPase, alpha-A(+) catalytic polypeptide
Na+/K+ ATPase, alpha-B polypeptide
sodium pump 2
sodium pump subunit alpha-2
sodium-potassium ATPase
sodium/potassium-transporting ATPase alpha-2 chain
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Lecturas adicionales y referencias
- ATPase Na+/K+ transporting subunit alpha 2; MedlinePlus, National Library of Medicine.
- Bassi MT, Bresolin N, Tonelli A, Nazos K, Crippa F, Baschirotto C, Zucca C, Bersano A, Dolcetta D, Boneschi FM, Barone V, Casari G. A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood. J Med Genet. 2004 Aug;41(8):621-8. doi: 10.1136/jmg.2003.017863. No abstract available.
- Castro MJ, Nunes B, de Vries B, Lemos C, Vanmolkot KR, van den Heuvel JJ, Temudo T, Barros J, Sequeiros J, Frants RR, Koenderink JB, Pereira-Monteiro JM, van den Maagdenberg AM. Two novel functional mutations in the Na+,K+-ATPase alpha2-subunit ATP1A2 gene in patients with familial hemiplegic migraine and associated neurological phenotypes. Clin Genet. 2008 Jan;73(1):37-43. doi: 10.1111/j.1399-0004.2007.00918.x. Epub 2007 Nov 19.
- de Vries B, Freilinger T, Vanmolkot KR, Koenderink JB, Stam AH, Terwindt GM, Babini E, van den Boogerd EH, van den Heuvel JJ, Frants RR, Haan J, Pusch M, van den Maagdenberg AM, Ferrari MD, Dichgans M. Systematic analysis of three FHM genes in 39 sporadic patients with hemiplegic migraine. Neurology. 2007 Dec 4;69(23):2170-6. doi: 10.1212/01.wnl.0000295670.01629.5a.
- Jurkat-Rott K, Freilinger T, Dreier JP, Herzog J, Gobel H, Petzold GC, Montagna P, Gasser T, Lehmann-Horn F, Dichgans M. Variability of familial hemiplegic migraine with novel A1A2 Na+/K+-ATPase variants. Neurology. 2004 May 25;62(10):1857-61. doi: 10.1212/01.wnl.0000127310.11526.fd.
- Pietrobon D. Familial hemiplegic migraine. Neurotherapeutics. 2007 Apr;4(2):274-84. doi: 10.1016/j.nurt.2007.01.008.
- Riant F, De Fusco M, Aridon P, Ducros A, Ploton C, Marchelli F, Maciazek J, Bousser MG, Casari G, Tournier-Lasserve E. ATP1A2 mutations in 11 families with familial hemiplegic migraine. Hum Mutat. 2005 Sep;26(3):281. doi: 10.1002/humu.9361.
- Riant F, Ducros A, Ploton C, Barbance C, Depienne C, Tournier-Lasserve E. De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine. Neurology. 2010 Sep 14;75(11):967-72. doi: 10.1212/WNL.0b013e3181f25e8f.
- Swoboda KJ, Kanavakis E, Xaidara A, Johnson JE, Leppert MF, Schlesinger-Massart MB, Ptacek LJ, Silver K, Youroukos S. Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation. Ann Neurol. 2004 Jun;55(6):884-7. doi: 10.1002/ana.20134.
- Tavraz NN, Durr KL, Koenderink JB, Freilinger T, Bamberg E, Dichgans M, Friedrich T. Impaired plasma membrane targeting or protein stability by certain ATP1A2 mutations identified in sporadic or familial hemiplegic migraine. Channels (Austin). 2009 Mar-Apr;3(2):82-7. doi: 10.4161/chan.3.2.8085. Epub 2009 Mar 3.
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