ATPase Na+/K+ transporting subunit alpha 1
Última actualización 7 Mar 2023
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El ATP1A1 gene provides instructions for making one part (the alpha-1 subunit) of a protein pump 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, the protein pumps sodium ions (Na+) out of cells and potassium ions (K+) into cells.
Normal function
El ATP1A1 gene provides instructions for making one part (the alpha-1 subunit) of a protein pump 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, the protein pumps sodium ions (Na+) out of cells and potassium ions (K+) into cells.
Na+/K+ ATPases that include the alpha-1 subunit are found in many types of cells, although the pumps appear to play a particularly important role in the adrenal glands, which are small hormone-producing glands located on top of each kidney. In the adrenal glands, the flow of sodium and potassium ions helps regulate the production of the hormone aldosterone, which controls blood pressure by maintaining proper salt and fluid levels in the body.
Conditions referring to this gene or chromosome
Otros nombres
ATPase, Na+/K+ transporting, alpha 1 polypeptide
Na(+)/K(+) ATPase alpha-1 subunit
Na+/K+ ATPase 1
Na, K-ATPase, alpha-A catalytic polypeptide
Na,K-ATPase alpha-1 subunit
Na,K-ATPase catalytic subunit alpha-A protein
sodium pump subunit alpha-1
sodium-potassium ATPase catalytic subunit alpha-1
sodium-potassium-ATPase, alpha 1 polypeptide
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Lecturas adicionales y referencias
- ATPase Na+/K+ transporting subunit alpha 1; MedlinePlus, National Library of Medicine.
- Azizan EA, Poulsen H, Tuluc P, Zhou J, Clausen MV, Lieb A, Maniero C, Garg S, Bochukova EG, Zhao W, Shaikh LH, Brighton CA, Teo AE, Davenport AP, Dekkers T, Tops B, Kusters B, Ceral J, Yeo GS, Neogi SG, McFarlane I, Rosenfeld N, Marass F, Hadfield J, Margas W, Chaggar K, Solar M, Deinum J, Dolphin AC, Farooqi IS, Striessnig J, Nissen P, Brown MJ. Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension. Nat Genet. 2013 Sep;45(9):1055-60. doi: 10.1038/ng.2716. Epub 2013 Aug 4.
- Beuschlein F, Boulkroun S, Osswald A, Wieland T, Nielsen HN, Lichtenauer UD, Penton D, Schack VR, Amar L, Fischer E, Walther A, Tauber P, Schwarzmayr T, Diener S, Graf E, Allolio B, Samson-Couterie B, Benecke A, Quinkler M, Fallo F, Plouin PF, Mantero F, Meitinger T, Mulatero P, Jeunemaitre X, Warth R, Vilsen B, Zennaro MC, Strom TM, Reincke M. Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension. Nat Genet. 2013 Apr;45(4):440-4, 444e1-2. doi: 10.1038/ng.2550. Epub 2013 Feb 17.
- Kitamoto T, Suematsu S, Yamazaki Y, Nakamura Y, Sasano H, Matsuzawa Y, Saito J, Omura M, Nishikawa T. Clinical and Steroidogenic Characteristics of Aldosterone-Producing Adenomas With ATPase or CACNA1D Gene Mutations. J Clin Endocrinol Metab. 2016 Feb;101(2):494-503. doi: 10.1210/jc.2015-3284. Epub 2015 Nov 25.
- Stindl J, Tauber P, Sterner C, Tegtmeier I, Warth R, Bandulik S. Pathogenesis of Adrenal Aldosterone-Producing Adenomas Carrying Mutations of the Na(+)/K(+)-ATPase. Endocrinology. 2015 Dec;156(12):4582-91. doi: 10.1210/en.2015-1466. Epub 2015 Sep 29.
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