| Gene Symbol | SCA3 |
| Full Name | ATXN3 (Ataxin-3) |
| Chromosome | 14q32.1. |
| Function | is a 361-amino acid protein encoded by the ATXN3 gene located on chromosome 14q32. |
| Amino Acids | 361 aa |
| UniProt ID | [Q9UHD8](https://www.uniprot.org/uniprotkb/Q9UHD8/entry) |
| GeneCards | SCA3 |
| Human Protein Atlas | SCA3 |
| N-terminal Josephin domain (JD) | A catalytic domain with deubiquitinating enzyme (DUB) activity |
| C-terminal polyglutamine (polyQ) tract | The pathogenic expansion occurs in this region |
| Multiple VCP/p97 binding motifs (VBM) | Involved in protein quality control |
| Nuclear localization signals (NLS) | Regulates subcellular trafficking |
| Protein quality control | Removing ubiquitin from misfolded proteins for degradation |
| Transcriptional regulation | Modulating histone ubiquitination |
| Stress response | Processing ubiquitin conjugates during cellular stress |
| Associated Diseases | Ataxia, Huntington, Huntington's disease, Ms, neurodegeneration |
| Interactions | ATM, ATXN3, CACNA1A, DNA, G3BP1, PNKP |
| KG Connections | 118 knowledge graph edges |
| Databases | GeneCardsNCBI GeneHPASTRING |
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