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 1 subunit. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

ATP1A1 Details

Gene Symbol : ATP1A1

Gene Name : ATPase Na+/K+ transporting subunit alpha 1

Chromosome : CHR 1: 116,373,172-116,404,773

Locus : 1p13.1

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IGSF3 Summary

The protein encoded by this gene is an immunoglobulin-like membrane protein containing several V-type Ig-like domains. A mutation in this gene has been associated with bilateral nasolacrimal duct obstruction (LCDD). [provided by RefSeq, Jun 2016]

IGSF3 Details

Gene Symbol : IGSF3

Gene Name : Immunoglobulin superfamily member 3

Chromosome : CHR 1: 116,667,754-116,574,397

Locus : 1p13.1

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