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ATP1A2

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Identifiers
SymbolsATP1A2 ; FHM2; MHP2
External IDsOMIM182340 MGI88106 HomoloGene47947 IUPHAR: 834 ChEMBL: 2715 GeneCards: ATP1A2 Gene
EC number3.6.3.9
RNA expression pattern
File:PBB GE ATP1A2 203296 s at tn.png
File:PBB GE ATP1A2 203295 s at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez47798660
EnsemblENSG00000018625ENSMUSG00000007097
UniProtP50993Q6PIE5
RefSeq (mRNA)NM_000702NM_178405
RefSeq (protein)NP_000693NP_848492
Location (UCSC)Chr 1:
160.09 – 160.11 Mb
Chr 1:
172.27 – 172.3 Mb
PubMed search[1][2]

ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide, also known as ATP1A2, is a protein which in humans is encoded by the ATP1A2 gene.[1]

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 2 subunit.[1]

Clinical significance

Mutations in the ATP1A2 gene has been implicated in the familial form of alternating hemiplegia of childhood.[2][3][4]

References

  1. 1.0 1.1 "Entrez Gene: ATP1A2 ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide". 
  2. Kanavakis E, Xaidara A, Papathanasiou-Klontza D, Papadimitriou A, Velentza S, Youroukos S (December 2003). "Alternating hemiplegia of childhood: a syndrome inherited with an autosomal dominant trait". Dev Med Child Neurol 45 (12): 833–6. PMID 14667076. doi:10.1017/S0012162203001543. 
  3. Swoboda KJ, Kanavakis E, Xaidara A, Johnson JE, Leppert MF, Schlesinger-Massart MB, Ptacek LJ, Silver K, Youroukos S (June 2004). "Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation". Ann. Neurol. 55 (6): 884–7. PMID 15174025. doi:10.1002/ana.20134. 
  4. Bassi MT, Bresolin N, Tonelli A, Nazos K, Crippa F, Baschirotto C, Zucca C, Bersano A, Dolcetta D, Boneschi FM, Barone V, Casari G (August 2004). "A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood". J. Med. Genet. 41 (8): 621–8. PMC 1735877. PMID 15286158. doi:10.1136/jmg.2003.017863. 

Further reading

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External links


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