SCA3_ATXN3

Gene
ATXN3
Disease
SCA3
Inheritance
AD
Classification
Definitive
Total Score
18
Publications Reviewed
6
Publication Span
30.25 years
Last Updated
8/12/25
Curator(s)
Macayla Weiner, Laurel Hiatt

Note: Maximum score caps apply at evidence type, category, and supercategory levels, so section totals may be lower than the raw sum of row scores.

Genetic evidence

Total: 12

Singular EvidenceProbands6
Collective EvidenceAllelePMID:90407422
StatisticsCase-control dataPMID:40178277 PMID:39921113 PMID:397313186
3 rows

Experimental evidence

Total: 6

FunctionBiochemical functionPMID:396990450.5
FunctionProtein interactionPMID:396990450.5
FunctionRegulatory ImpactPMID:396990450.5
Functional AlterationPatient cellsPMID:396990451
Functional AlterationNon-patient cellsPMID:396990450.5
ModelsNon-human model organismPMID:78741632
RescueRescue in non-human model organismPMID:392984852
7 rows