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ATPase, Na+/K+ Transporting Alpha 3 Polypeptide (ATP1a3)

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DYT12; RDP; Dystonia 12; Na(+)/K(+) ATPase alpha(III) subunit; Sodium pump subunit alpha-3; Sodium/potassium-transporting ATPase subunit alpha-3

ATPase, Na+/K+ Transporting Alpha 3 Polypeptide (ATP1a3)
CCC E759
HGNC 801
MGI 88107
PubMed 22842232
RGD 2169
UniProt P13637
Wiki ATP1A3
ATP1a3 belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+-ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle.
This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 3 subunit.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant ATPase, Na+/K+ Transporting Alpha 3 Polypeptide (ATP1a3) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to ATPase, Na+/K+ Transporting Alpha 3 Polypeptide (ATP1a3) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to ATPase, Na+/K+ Transporting Alpha 3 Polypeptide (ATP1a3) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for ATPase, Na+/K+ Transporting Alpha 3 Polypeptide (ATP1a3) CLIA Kit Customized Service Offer
n/a ELISA Kit for ATPase, Na+/K+ Transporting Alpha 3 Polypeptide (ATP1a3) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant ATPase, Na+/K+ Transporting Alpha 3 Polypeptide (ATP1a3) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to ATPase, Na+/K+ Transporting Alpha 3 Polypeptide (ATP1a3) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to ATPase, Na+/K+ Transporting Alpha 3 Polypeptide (ATP1a3) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for ATPase, Na+/K+ Transporting Alpha 3 Polypeptide (ATP1a3) CLIA Kit Customized Service Offer
n/a ELISA Kit for ATPase, Na+/K+ Transporting Alpha 3 Polypeptide (ATP1a3) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant ATPase, Na+/K+ Transporting Alpha 3 Polypeptide (ATP1a3) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to ATPase, Na+/K+ Transporting Alpha 3 Polypeptide (ATP1a3) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to ATPase, Na+/K+ Transporting Alpha 3 Polypeptide (ATP1a3) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for ATPase, Na+/K+ Transporting Alpha 3 Polypeptide (ATP1a3) CLIA Kit Customized Service Offer
n/a ELISA Kit for ATPase, Na+/K+ Transporting Alpha 3 Polypeptide (ATP1a3) ELISA Kit Customized Service Offer
  1. "Family of human Na+, K+-ATPase genes. Structure of the gene for the catalytic subunit (alpha III-form) and its relationship with structural features of the protein."FEBS Lett. 233:87-94(1988) [PubMed] [Europe PMC] [Abstract]
  2. "Family of human Na(+),K(+)-ATPase genes. Structure of the gene of isoform alpha-III."Dokl. Akad. Nauk SSSR 297:1488-1494(1987) [PubMed] [Europe PMC] [Abstract]
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  4. "The DNA sequence and biology of human chromosome 19." Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  6. "The family of human Na+,K+-ATPase genes. A partial nucleotide sequence related to the alpha-subunit."FEBS Lett. 213:73-80(1987) [PubMed] [Europe PMC] [Abstract]
  7. ErratumFEBS Lett. 214:375-375(1987)
  8. "The family of human Na+,K+-ATPase genes. No less than five genes and/or pseudogenes related to the alpha-subunit."FEBS Lett. 217:275-278(1987) [PubMed] [Europe PMC] [Abstract]
  9. "Subcellular distribution and immunocytochemical localization of Na,K-ATPase subunit isoforms in human skeletal muscle."Mol. Membr. Biol. 11:255-262(1994) [PubMed] [Europe PMC] [Abstract]
  10. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  11. "Mutations in the Na(+)/K(+)-ATPase alpha-3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism."Neuron 43:169-175(2004) [PubMed] [Europe PMC] [Abstract]
  12. "A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism."Hum. Mol. Genet. 18:2370-2377(2009) [PubMed] [Europe PMC] [Abstract]
  13. "Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation."Neurology 73:400-401(2009) [PubMed] [Europe PMC] [Abstract]
  14. "Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study."Lancet Neurol. 11:764-773(2012) [PubMed] [Europe PMC] [Abstract]
  15. "De novo mutations in ATP1A3 cause alternating hemiplegia of childhood." Nat. Genet. 44:1030-1034(2012) [PubMed] [Europe PMC] [Abstract]
  16. "Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients."PLoS ONE 8:E56120-E56120(2013) [PubMed] [Europe PMC] [Abstract]
  17. "A novel recurrent mutation in ATP1A3 causes CAPOS syndrome."Orphanet J. Rare Dis. 9:15-15(2014) [PubMed] [Europe PMC] [Abstract]