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Gene Review

ATP1A3  -  ATPase, Na+/K+ transporting, alpha 3...

Homo sapiens

Synonyms: AHC2, CAPOS, DYT12, Na(+)/K(+) ATPase alpha(III) subunit, Na(+)/K(+) ATPase alpha-3 subunit, ...
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Disease relevance of ATP1A3


Psychiatry related information on ATP1A3


High impact information on ATP1A3

  • We report the finding of six missense mutations in the gene for the Na+/K+ -ATPase alpha3 subunit (ATP1A3) in seven unrelated families with RDP [1].
  • A dinucleotide repeat polymorphism in the human Na+,K+ ATPase, alpha subunit (ATP1A3) gene [5].
  • Very recently, mutations in the ATP1A3 gene at the DYT12 locus have been demonstrated in seven unrelated patients, including the three previously linked families [6].
  • The alpha 3 gene, which is expressed primarily in neural tissues (ATP1A3), was assigned to human chromosome 19 [7].
  • Examination of multiply informative pedigrees indicates the gene order DM-APOC2-ATP1A3 [2].

Biological context of ATP1A3


Associations of ATP1A3 with chemical compounds


  1. Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. de Carvalho Aguiar, P., Sweadner, K.J., Penniston, J.T., Zaremba, J., Liu, L., Caton, M., Linazasoro, G., Borg, M., Tijssen, M.A., Bressman, S.B., Dobyns, W.B., Brashear, A., Ozelius, L.J. Neuron (2004) [Pubmed]
  2. Localization of a human Na+,K+-ATPase alpha subunit gene to chromosome 19q12----q13.2 and linkage to the myotonic dystrophy locus. Harley, H.G., Brook, J.D., Jackson, C.L., Glaser, T., Walsh, K.V., Sarfarazi, M., Kent, R., Lager, M., Koch, M., Harper, P.S. Genomics (1988) [Pubmed]
  3. Evidence for an allelic association between bipolar disorder and a Na+, K+ adenosine triphosphatase alpha subunit gene (ATP1A3). Mynett-Johnson, L., Murphy, V., McCormack, J., Shields, D.C., Claffey, E., Manley, P., McKeon, P. Biol. Psychiatry (1998) [Pubmed]
  4. Absence of a significant linkage between Na(+),K(+)-ATPase subunit (ATP1A3 and ATP1B3) genotypes and bipolar affective disorder in the old-order Amish. Philibert, R.A., Cheung, D., Welsh, N., Damschroder-Williams, P., Thiel, B., Ginns, E.I., Gershenfeld, H.K. Am. J. Med. Genet. (2001) [Pubmed]
  5. A dinucleotide repeat polymorphism in the human Na+,K+ ATPase, alpha subunit (ATP1A3) gene. Kazantsev, A., Yamaoka, L.H., Roses, A.D. Nucleic Acids Res. (1992) [Pubmed]
  6. Genetic heterogeneity in rapid onset dystonia-parkinsonism: description of a new family. Kabakci, K., Isbruch, K., Schilling, K., Hedrich, K., de Carvalho Aguiar, P., Ozelius, L.J., Kramer, P.L., Schwarz, M.H., Klein, C. J. Neurol. Neurosurg. Psychiatr. (2005) [Pubmed]
  7. Chromosomal localization of human Na+, K+-ATPase alpha- and beta-subunit genes. Yang-Feng, T.L., Schneider, J.W., Lindgren, V., Shull, M.M., Benz, E.J., Lingrel, J.B., Francke, U. Genomics (1988) [Pubmed]
  8. Genes encoding the H,K-ATPase alpha and Na,K-ATPase alpha 3 subunits are linked on mouse chromosome 7 and human chromosome 19. Malo, D., Gros, P., Bergmann, A., Trask, B., Mohrenweiser, H.W., Canfield, V.A., Levenson, R. Mamm. Genome (1993) [Pubmed]
  9. Susceptibility genes for familial Alzheimer's disease on chromosomes 19 and 21: a reality check. Farrer, L.A., Stice, L. Genet. Epidemiol. (1993) [Pubmed]
  10. Structural characterization of a glucan isolated from Hedyotis diffusa Willd. Cui, J., Wang, S.C., Shi, S.S., Wang, Z.T. Zhong yao cai = Zhongyaocai = Journal of Chinese medicinal materials (2006) [Pubmed]
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