ATP1A2

ATP1A2

A gene on chromosome 1q21-q23 that encodes an alpha 2 (catalytic) subunit of the family of P-type cation transport ATPases and subfamily of Na+/K+ -ATPases. These Na+/K+ -ATPases are heterodimers composed of a large alpha subunit and a smaller beta subunit, and are responsible for establishing and maintaining the electrochemical gradients of Na and K ions across plasma membranes. These electrochemical gradients are required for osmoregulation, sodium-coupled transport of various organic and inorganic molecules and electrical excitability of nerve and muscle.

Molecular pathology
ATP1A2 mutations are linked to familial basilar or hemiplegic migraines, and alternating hemiplegia of childhood.
References in periodicals archive ?
Recently, a variant of ATP1A2 was associated with a new form of progressive hearing loss with migraine in a Korean family [71].
Migrainous vertigo: mutation analysis of the candidate genes CACNA1A, ATP1A2, SCN1A, and CACNB4," Headache, vol.
A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine," European Journal of Human Genetics, vol.
More recently, mutations in ATP1A2 on chromosome 1g23 that encode the [[alpha].
After four years of research, the scientists found that the family all had one gene in common--the ATP1A2.
According to their research, which appeared online in the January 2003 edition of the journal Nature Genetics, ATP1A2 causes a malfunction in the sodium potassium pump.