ATP1A3

ATP1A3 is a gene that provides instructions for producing one piece of a protein called the sodium/potassium-transporting ATPase subunit alpha-3. This protein is found in all of the body's cells and is critical for normal cell function. The sodium/potassium-transporting ATPase subunit alpha-3 is involved in several important functions, including maintaining the proper balance of sodium and potassium ions inside cells, helping nerve cells transmit signals, and enabling muscles to contract.

Function[edit | edit source]

The ATP1A3 gene provides instructions for producing one piece of a protein called the sodium/potassium-transporting ATPase subunit alpha-3. This protein is found in all of the body's cells and is critical for normal cell function. The sodium/potassium-transporting ATPase subunit alpha-3 is involved in several important functions, including maintaining the proper balance of sodium and potassium ions inside cells, helping nerve cells transmit signals, and enabling muscles to contract.

Clinical significance[edit | edit source]

Mutations in the ATP1A3 gene cause Alternating hemiplegia of childhood (AHC), Rapid-onset dystonia parkinsonism (RDP), and Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS syndrome). These conditions affect the nervous system, causing a variety of symptoms that can include movement problems, intellectual disability, and seizures.

References[edit | edit source]

External links[edit | edit source]

ATP1A3 Resources
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