ATP1A3 : ATPase Na+/K+ transporting subunit alpha 3

Description

The ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) is a protein-coding gene located on chromosome 19.

The ATP1A3 gene provides instructions for making the alpha-3 subunit of the sodium-potassium pump (Na+/K+ ATPase). This protein uses energy from ATP to move sodium (Na+) out of cells and potassium (K+) into cells. The alpha-3 subunit is critical for nerve cell function, as the movement of these ions regulates electrical activity and muscle movement. Na+/K+ ATPase also regulates cell size and neurotransmitter reuptake, which is essential for accurate communication between nerve cells.

The ATP1A3 gene encodes the alpha-3 subunit of the sodium-potassium pump (Na+/K+ ATPase), a protein crucial for maintaining the electrochemical gradient of sodium and potassium ions across cell membranes. This gradient is essential for nerve cell function, muscle contraction, cell volume regulation, and neurotransmitter reuptake. The alpha-3 subunit plays a catalytic role, hydrolyzing ATP to power the exchange of sodium and potassium ions. This process provides energy for the active transport of nutrients.

ATP1A3 is also known as AHC2, ATP1A1, CAPOS, DEE99, DYT12, RDP.

Associated Diseases

• Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
• Dystonia 12
• Alternating hemiplegia of childhood
• Rapid-onset dystonia-parkinsonism
• Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss
• Developmental and epileptic encephalopathy 99
• Alternating hemiplegia of childhood 2
• Non-specific early-onset epileptic encephalopathy
• Rapid-onset dystonia parkinsonism