Na+/K+ ATPase-alpha 3 (Na+ pump subunit alpha-3, Na+/K+ ATPase alpha-3 subunit, Na+/K+ ATPase alpha(III) subunit, ATP1A3)
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Function
- catalytic component of Na+/K+ ATPase, which catalyzes hydrolysis of ATP coupled with exchange of Na+ & K+ ions across the plasma membrane
- this action creates the electrochemical gradient of Na+ & K+ ions, providing the energy for active transport of various nutrients
Structure
Compartment
membrane
Expression
- found predominanty in neural tissues
Pathology
- defects in ATP1A3 are the cause of dystonia-12[1][2]
More general terms
Additional terms
References
- ↑ 1.0 1.1 OMIM https://mirror.omim.org/entry/182350
- ↑ 2.0 2.1 de Carvalho Aguiar P et al Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. Neuron 43:169-175, 2004 PMID: https://www.ncbi.nlm.nih.gov/pubmed/15260953
- ↑ UniProt http://www.uniprot.org/uniprot/P13637.html
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP1A3