ATP1A2 Antibody – Rabbit

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 2 subunit. Mutations in this gene result in familial basilar or hemiplegic migraines, and in a rare syndrome known as alternating hemiplegia of childhood. [provided by RefSeq, Oct 2008]

ATP1A2: This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium, providing the energy for active transport of various nutrients. Defects in ATP1A2 are the cause of familial hemiplegic migraine type 2 (FHM2). FHM2 is a rare, severe, autosomal dominant subtype of migraine characterized by aura and some hemiparesis. Defects in ATP1A2 are a cause of alternating hemiplegia of childhood 1 (AHC1). AHC is typically distinguished from familial hemiplegic migraine by infantile onset of the symptoms and high prevalence of associated neurological deficits that become increasingly obvious with age. Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily.

Protein type: Hydrolase; Membrane protein, multi-pass; Transporter, ion channel; Membrane protein, integral; Transporter; EC 3.6.3.9

Chromosomal Location of Human Ortholog: 1q23.2

Cellular Component: T-tubule; cytoplasm; dendritic spine; plasma membrane; synapse; caveola; sodium:potassium-exchanging ATPase complex; endosome; vesicle

Molecular Function: metal ion binding; chaperone binding; sodium:potassium-exchanging ATPase activity; ATP binding

Biological Process: regulation of smooth muscle contraction; response to nicotine; cellular sodium ion homeostasis; negative regulation of heart contraction; metabolic process; adult locomotory behavior; regulation of striated muscle contraction; sodium ion transport; neurological control of breathing; cellular potassium ion homeostasis; negative regulation of striated muscle contraction; potassium ion import; regulation of vasoconstriction; reduction of cytosolic calcium ion concentration; regulation of blood pressure; ATP hydrolysis coupled proton transport; neurotransmitter uptake; visual learning; locomotion; transmembrane transport; regulation of the force of heart contraction; potassium ion transport; cardiac muscle contraction

Disease: Migraine, Familial Hemiplegic, 2; Alternating Hemiplegia Of Childhood 1