ATP1A2

ATP1A2 is a gene that provides instructions for making the alpha-2 subunit of the sodium-potassium pump, also known as the Na+/K+-ATPase. This pump is an enzyme found in the cell membrane of most animal cells. It plays a crucial role in maintaining the electrochemical gradient across the cell membrane by transporting sodium ions out of the cell and potassium ions into the cell. This process requires energy, which is supplied by the hydrolysis of ATP.

The alpha-2 subunit is one of the catalytic subunits of the Na+/K+-ATPase and is particularly abundant in astrocytes, a type of glial cell in the brain. In astrocytes, the ATP1A2 pump is involved in regulating extracellular potassium levels and clearing glutamate from the synaptic cleft, both of which are essential for proper neuronal function and preventing excitotoxicity.

Mutations in the ATP1A2 gene have been linked to a variety of neurological disorders. These include familial hemiplegic migraine type 2 (FHM2), a rare form of migraine with aura, and alternating hemiplegia of childhood (AHC), a severe neurodevelopmental disorder characterized by recurrent episodes of weakness or paralysis affecting one side of the body. Other conditions associated with ATP1A2 mutations include epilepsy and some forms of intellectual disability. The specific symptoms and severity of the disorder depend on the nature and location of the mutation within the gene. Research continues to explore the precise mechanisms by which ATP1A2 dysfunction leads to these neurological conditions.