ATP1A3

ATPase Na+/K+ transporting subunit alpha 3

3 disorders 2 untyped 1 causative 19q13.2 gene with protein product

HGNC:801 Monarch NCBI Gene 478 ENSG00000105409 UniProt P13637 OMIM 182350

Previous symbols: DYT12.

Normal function · from ai-gene-review (P13637, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status DRAFT; the description is shown only once the review is complete. Read the draft upstream.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
CAPOS Syndrome	causative	mechanism: ATP1A3 p.Glu818Lys Na+/K+-ATPase Alpha-3 Pump Dysfunction
Alternating Hemiplegia of Childhood	untyped Causative	mechanism: ATP1A3-dependent neuronal membrane transport dysfunction
Auditory Neuropathy	untyped Causative	mechanism: Auditory Nerve Dyssynchrony

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
ATP1A3-associated neurological disorder MONDO:0700002	AD	Definitive 2022-05-22	no dismech entry

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.