| Gene Symbol | HUNTINGTIN_PROTEIN |
| Function | Huntingtin is essential for embryonic development and has multiple functions in the adult nervous system[1]: |
| Amino Acids | 144 aa |
| N-terminal domain (1-90 aa) | Contains the polyglutamine (polyQ) tract (CAG repeat, normally 10-35) |
| HEAT repeat domain (90-1,700 aa) | ~23 HEAT repeats; mediates protein-protein interactions |
| Bridge region (1,700-2,200 aa) | Flexible linker with multiple proline-rich motifs |
| C-terminal domain (2,200-3,144 aa) | Contains additional HEAT repeats and regulatory sequences |
| Phosphorylation | At Ser-16, Ser-421, Thr-47 (neuroprotective) |
| Acetylation | At Lys-44, Lys-555 (affects aggregation and clearance) |
| Sumoylation | Multiple sites |
| Palmitoylation | At Cys-214 (membrane association) |
| Proteolytic cleavage | By caspases, calpains generating toxic N-terminal fragments |
| Axonal transport | Associates with dynein/dynactin and kinesin for vesicle movement |
| Associated Diseases | neurodegeneration |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
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