https://wikimd.org/index.php?action=history&feed=atom&title=ATP1A3 2026-04-25T23:39:27Z Revision history for this page on the wiki MediaWiki 1.44.2 https://wikimd.org/index.php?title=ATP1A3&diff=6496592&oldid=prev 2025-03-17T02:57:30Z

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Prab https://wikimd.org/index.php?title=ATP1A3&diff=6203568&oldid=prev 2025-02-10T05:20:10Z

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Prab https://wikimd.org/index.php?title=ATP1A3&diff=5300845&oldid=prev 2024-02-25T22:41:55Z

<p>CSV import</p> <p><b>New page</b></p><div>&#039;&#039;&#039;ATP1A3&#039;&#039;&#039; 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&#039;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.<br /> <br /> == Function ==<br /> 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&#039;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.<br /> <br /> == Clinical significance ==<br /> 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.<br /> <br /> == See also ==<br /> * [[Sodium-potassium pump]]<br /> * [[ATPase]]<br /> * [[Alternating hemiplegia of childhood]]<br /> * [[Rapid-onset dystonia parkinsonism]]<br /> * [[Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss]]<br /> <br /> == References ==<br /> &lt;references /&gt;<br /> <br /> == External links ==<br /> * [https://ghr.nlm.nih.gov/gene/ATP1A3 ATP1A3] at [[Genetics Home Reference]]<br /> * [https://www.ncbi.nlm.nih.gov/gene/478 ATP1A3] at [[National Center for Biotechnology Information]]<br /> <br /> [[Category:Genes]]<br /> [[Category:Human proteins]]<br /> [[Category:Ion transport]]<br /> [[Category:Neurology]]<br /> [[Category:Genetic disorders]]<br /> <br /> {{stub}}</div>

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