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CAPOS
Chr 19ATPase Na+/K+ transporting subunit alpha 3
Also known as: AHC2, CAPOS, DEE99, DYT12, RDP
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.
Some data sources returned errors (3)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/CAPOS?content-type=application/json&expand=1
gnomad: Error: Gene not found
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CAPOS · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools