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ATP1A3

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Identifiers
SymbolsATP1A3 ; AHC2; DYT12; RDP
External IDsOMIM182350 MGI88107 HomoloGene113729 IUPHAR: 835 ChEMBL: 4052 GeneCards: ATP1A3 Gene
EC number3.6.3.9
RNA expression pattern
File:PBB GE ATP1A3 214432 at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez478232975
EnsemblENSG00000105409ENSMUSG00000040907
UniProtP13637Q6PIC6
RefSeq (mRNA)NM_001256213NM_001290469
RefSeq (protein)NP_001243142NP_001277398
Location (UCSC)Chr 19:
42.47 – 42.5 Mb
Chr 7:
24.98 – 25.01 Mb
PubMed search[1][2]

Sodium/potassium-transporting ATPase subunit alpha-3 is an enzyme that in humans is encoded by the ATP1A3 gene.[1][2]

Function

The protein encoded by this gene 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.[2]

Clinical significance

Mutations in ATP1A3 are often seen in rapid-onset dystonia–parkinsonism (RDP) (also known as DYT12), and genetic testing is recommended in patients where this diagnosis is suspected.[citation needed]

In mice, mutations in this gene are associated with epilepsy. By manipulating this gene in the offspring of such mice, epilepsy can be avoided.[3]

This gene is the likely genetic cause of alternating hemiplegia of childhood.[4]

References

  1. ^ Brashear A, Dobyns WB, de Carvalho Aguiar P, Borg M, Frijns CJ, Gollamudi S et al. (Mar 2007). "The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene". Brain 130 (Pt 3): 828–35. PMID 17282997. doi:10.1093/brain/awl340. 
  2. ^ a b "Entrez Gene: ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide". 
  3. ^ Clapcote SJ, Duffy S, Xie G, Kirshenbaum G, Bechard AR, Rodacker Schack V et al. (August 2009). "Mutation I810N in the alpha3 isoform of Na+,K+-ATPase causes impairments in the sodium pump and hyperexcitability in the CNS". Proc. Natl. Acad. Sci. U.S.A. 106 (33): 14085–90. PMC 2729024. PMID 19666602. doi:10.1073/pnas.0904817106. 
  4. ^ Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, Nicole S, de Vries B et al. (July 2012). "De novo mutations in ATP1A3 cause alternating hemiplegia of childhood". Nat Genet 44 (9): 1030–4. PMC 3442240. PMID 22842232. doi:10.1038/ng.2358. 

Further reading

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External links


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