ATPase, Na+/K+ Transporting Alpha 2 Polypeptide (ATP1a2)

FHM2; MHP2; Migraine,Hemiplegic 2; Sodium pump subunit alpha-2; Sodium/potassium-transporting ATPase subunit alpha-2

SPN	Q443
HGNC	800
MGI	88106
PubMed	23918834
RGD	2168
UniProt	P50993
Wiki	ATP1A2

ATP1a2 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 2 subunit. Mutations in this gene result in familial basilar or hemiplegic migraines, and in a rare syndrome known as alternating hemiplegia of childhood.

Reference

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"Functional characterization of a novel C-terminal ATP1A2 mutation causing hemiplegic migraine and epilepsy."
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"A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy."
Cephalalgia 34:68-72(2014) [PubMed] [Europe PMC] [Abstract]