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CAPOS

Chr 19AD

ATPase Na+/K+ transporting subunit alpha 3

Also known as: AHC2, CAPOS, DEE99, DYT12, RDP

NCBI Gene: 478 OMIM: 601338

The protein is the alpha-3 subunit of Na+/K+-ATPase, an integral membrane enzyme that establishes and maintains sodium and potassium ion gradients across cell membranes, which are essential for nerve and muscle electrical excitability, osmoregulation, and transport of various molecules. Mutations cause CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss), an autosomal dominant disorder with childhood onset affecting the nervous system, vision, and hearing. The gene is associated with episodic neurological symptoms that can be triggered by fever or illness.

OMIM ResearchSummary from RefSeq

The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 3 subunit. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

OMIM ResearchGenerating clinical summary…

AD1 OMIM phenotype

Clinical Summary— CAPOS

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Clinical Trials

1 active or recruiting trial — potential therapeutic options may be available

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Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/CAPOS?content-type=application/json&expand=1

gnomad: Error: Gene not found