| Gene Symbol | ATAXIN3 |
| Protein Family | Josephin family (deubiquitinating enzymes) |
| Protein Type | Enzyme |
| Function | is a deubiquitinating enzyme encoded by the ATXN3 gene. |
| Molecular Weight | 42 kDa |
| UniProt ID | P54252 |
| GeneCards | ATAXIN3 |
| Human Protein Atlas | ATAXIN3 |
| Protein quality control | Ataxin-3 removes polyubiquitin chains from misfolded proteins, facilitating their refolding or proteasomal degradation[@todi2022] |
| Transcriptional regulation | Ataxin-3 interacts with transcription factors including histone deacetylases and the androgen receptor, modulating gene expression[@evert2021] |
| Autophagy regulation | Ataxin-3 regulates autophagic flux by deubiquitinating autophagy receptors and maintaining protein aggregate clearance[@rui2022] |
| DNA repair | Ataxin-3 participates in DNA damage response pathways, including homologous recombination and base excision repair[@gao2023] |
| Mitochondrial quality control | Ataxin-3 helps maintain mitochondrial integrity and function under cellular stress[@liu2022] |
| Toxic gain-of-function | Expanded polyQ tract confers novel toxic properties, including altered protein interactions and impaired autophagy[@costa2023a] |
| Transcriptional dysregulation | Mutant ataxin-3 disrupts normal transcriptional programs through aberrant interactions with transcription factors and histone modifiers[@mcloughlin2022] |
| Associated Diseases | neurodegeneration |
| Databases | GeneCardsNCBI GeneHPASTRING |
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