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

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

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.

See also

• Sodium-potassium pump
• ATPase
• Alternating hemiplegia of childhood
• Rapid-onset dystonia parkinsonism
• Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss

References

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External links

• ATP1A3 at Genetics Home Reference
• ATP1A3 at National Center for Biotechnology Information

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