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 ions, providing the energy for active transport of various nutrients. Defects in ATP1A3 are the cause of dystonia type 12 (DYT12); also known as rapid-onset dystonia parkinsonism (RDP). DYT12 is an autosomal dominant dystonia- parkinsonism disorder. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT12 patients develop dystonia and parkinsonism between 15 and 45 years of age. The disease is characterized by an unusually rapid evolution of signs and symptoms. The sudden onset of symptoms over hours to a few weeks, often associated with physical or emotional stress, suggests a trigger initiating a nervous system insult resulting in permanent neurologic disability. Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily. Note: This description may include information from UniProtKB.
Protein type: EC 188.8.131.52; Endoplasmic reticulum; Hydrolase; Membrane protein, integral; Membrane protein, multi-pass; Transporter; Transporter, ion channel