ATP1A3


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ATP1A3

A gene on chromosome 19q13.31 that encodes an enzyme belonging to the family of P-type cation transport ATPases and the subfamily of Na+/K+ -ATPases, the latter of which are responsible for establishing and maintaining electrochemical gradients of Na and K ions across the plasma membrane; they are required for osmoregulation in sodium-coupled transport of various organic and inorganic molecules, and for electrical excitability of nerve and muscle.
References in periodicals archive ?
The mice were found to have a defective version of the gene ATP1A3 which led them to suffer spontaneous seizures.
However, the human ATP1A3 gene matches the mouse version of the gene by more than 99 per cent, so we've already started to screen DNA samples from epilepsy patients to investigate whether ATP1A3 gene defects are involved the human condition," Dr Clapcote added.
The research suggested that the mice shared a defective ATP1A3 gene, which is responsible for pumping sodium and potassium ions across the cell membrane.