ATP1A3-associated neurological disorder: genes and variants
ATP1A3-associated neurological disorder is linked to 1 analyzed protein (ATP1A3). 4 DNA variants are known to cause it; 0 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to ATP1A3-associated neurological disorder
ATP1A3: Sodium/potassium-transporting ATPase subunit alpha-3
It rapidly restores neuronal sodium and potassium gradients after repetitive firing, making it particularly important in highly active neurons. Pathogenic variants cause overlapping syndromes including alternating hemiplegia of childhood, rapid-onset dystonia-parkinsonism, and CAPOS syndrome.
4 disease-causing and 0 uncertain variants in ATP1A3 are linked to ATP1A3-associated neurological disorder.
Known disease-causing variants in ATP1A3-associated neurological disorder
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ATP1A3 R756H | 756 | Cytoplasmic | Disease-causing (★★) |
| ATP1A3 I777N | 777 | Transmembrane | Disease-causing (★★) |
| ATP1A3 D923N | 923 | Transmembrane | Disease-causing (★★) |
| ATP1A3 S359Y | 359 | Cytoplasmic | Disease-causing (★) |
Same protein, different disease
- Alternating hemiplegia of childhood is also caused by ATP1A3 variants; they fall mostly in different places as the ATP1A3-associated neurological disorder variants (23 disease-causing).
- Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome is also caused by ATP1A3 variants; they fall mostly in different places as the ATP1A3-associated neurological disorder variants (18 disease-causing).
Diseases related to ATP1A3-associated neurological disorder
- Alternating hemiplegia of childhood, also linked to ATP1A3
- Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, also linked to ATP1A3
- Hereditary ataxia, also linked to ATP1A3
- Dystonic disorder, also linked to ATP1A3
Frequently asked questions
Which genes are linked to ATP1A3-associated neurological disorder?
In CATVariant, ATP1A3-associated neurological disorder is linked to 1 analyzed protein: ATP1A3 (Sodium/potassium-transporting ATPase subunit alpha-3).
How many genetic variants are linked to ATP1A3-associated neurological disorder?
7 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 0 are of uncertain significance or have conflicting reports.
Which uncertain variants in ATP1A3-associated neurological disorder look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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