The ATP1A3 gene provides instructions for making one part (the alpha-3 subunit) of a protein known as Na+/K+ ATPase or the sodium pump. This protein uses energy from a molecule called adenosine triphosphate (ATP) to transport charged atoms (ions) into and out of cells. Specifically, it pumps sodium ions (Na+) out of cells and potassium ions (K+) into cells.
Na+/K+ ATPases that include the alpha-3 subunit are critical for normal function of nerve cells in the brain (neurons). The movement of sodium and potassium ions helps regulate the electrical activity of these cells and plays an important role in the signaling process that controls muscle movement. The activity of Na+/K+ ATPase also helps regulate cell size (volume).
Additionally, Na+/K+ ATPase helps regulate a process called neurotransmitter reuptake. Neurotransmitters are chemical messengers that transmit signals from one neuron to another. After a neurotransmitter has had its effect, it must be removed quickly from the space between the neurons. The reuptake of neurotransmitters is carefully controlled to ensure that signals are sent and received accurately throughout the nervous system.
Other Names
AT1A3_HUMAN; ATPase, Na+/K+ transporting, alpha 3 polypeptide; Na+/K+ -ATPase alpha 3 subunit; Na+/K+ ATPase 3; sodium pump 3; sodium-potassium-ATPase, alpha 3 polypeptide; sodium/potassium-transporting ATPase alpha-3 chain
Related Genetics Topics
- Rapid-onset dystonia parkinsonism — MedlinePlus Genetics
- Alternating hemiplegia of childhood — MedlinePlus Genetics
Identifiers
- NCBI Gene: 478
- OMIM: 182350
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
