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ATP1B1 ATPase Na+/K+ transporting subunit beta 1

Gene ID: 481, updated on 5-Mar-2024
Gene type: protein coding
Also known as: ATP1B

Summary

The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, 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 beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 1 subunit. Alternatively spliced transcript variants encoding different isoforms have been described, but their biological validity is not known. [provided by RefSeq, Mar 2010]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.
GeneReviews: Not available
Common variants at ten loci modulate the QT interval duration in the QTSCD Study.
GeneReviews: Not available
Essential hypertension, genetic
MedGen: CN305331OMIM: 145500GeneReviews: Not available
See labs
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
GeneReviews: Not available
Genome-wide association study of electrocardiographic parameters identifies a new association for PR interval and confirms previously reported associations.
GeneReviews: Not available
Impact of ancestry and common genetic variants on QT interval in African Americans.
GeneReviews: Not available

Genomic context

Location:
1q24.2
Sequence:
Chromosome: 1; NC_000001.11 (169106690..169132719)
Total number of exons:
6

Links

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