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ATP1A3 ATPase Na+/K+ transporting subunit alpha 3

Gene ID: 478, updated on 2-Nov-2024
Gene type: protein coding
Also known as: RDP; AHC2; CAPOS; DEE99; DYT12; ATP1A1

Summary

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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

Genomic context

Location:
19q13.2
Sequence:
Chromosome: 19; NC_000019.10 (41966582..41994230, complement)
Total number of exons:
25

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