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ATXN3L

Gene

ataxin 3 like

HGNCHGNC:24173EnsemblENSG00000123594NCBI Gene92552
Locus: gene with protein productLocation: Xp22.2

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known asMJDL · ATXN3L1
View full nomenclature history (3)
Alias symbolsMJDL, ATXN3L1
Previous namesataxin 3-like

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

Genetic developmental and epileptic encephalopathy
Prion Diseases
Undetermined early-onset epileptic encephalopathy
Neuronal Ceroid-Lipofuscinoses

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Gene family

HGNC gene-group membership.

Ataxin 3 family

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2026-04-22.
Open TargetsGene–disease associations from the Open Targets Platform.