| Gene Symbol | ATXN3 |
| Aliases | SCA3/Machado-Joseph Disease |
| Chromosome | 14q32.12 |
| Protein Type | Protease |
| Function | Polyubiquitin chain cleavage — Preferentially cleaves K63-linked chains |
| Molecular Weight | 42 kDa |
| Amino Acids | 364 aa |
| Pathways | Autophagy |
| UniProt ID | P54252 |
| GeneCards | ATXN3 |
| Human Protein Atlas | ATXN3 |
| Josephin domain | catalytic domain with deubiquitinase activity (N-terminal) |
| Polyglutamine tract | CAG repeat region (normal <44; pathogenic >52) |
| Ubiquitin-interacting motifs (UIMs) | typically 2-3 UIMs that bind ubiquitin chains |
| Nuclear localization signal | regulates subcellular distribution |
| Associated Diseases | Als, Alzheimer's disease, Ataxia, dementia, frontotemporal |
| Interactions | AND, ATM, ATXN2, BECN1, BMAL1, DNA |
| KG Connections | 161 knowledge graph edges |
| Databases | GeneCardsNCBI GeneHPASTRING |
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