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Atp1a2

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Title: Atp1a2  
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Subject: ATPase, Na+/K+-ATPase, Familial hemiplegic migraine, Alternating hemiplegia of childhood
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Atp1a2

ATPase, Na+/K+ transporting, alpha 2 polypeptide
PDB rendering based on 1q3i.
Available structures
PDB Ortholog search: RCSB
Identifiers
3.6.3.9
RNA expression pattern

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

Further reading

External links

  • GeneReviews/NCBI/NIH/UW entry on Familial Hemiplegic Migraine


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