Gene: ATP1A1

Alternate names for this Gene: CMT2DD|HOMGSMR2

Gene 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 1 subunit. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 1

Location in Chromosome : 1p13.1

Description of this Gene: ATPase Na+/K+ transporting subunit alpha 1

Type of Gene: protein-coding

rs1553190285 in ATP1A1 gene and CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD PMID 29499166 2018 Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.

rs1407717 in ATP1A1 gene and Low density lipoprotein cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs1407717 in ATP1A1 gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.