| Gene Symbol | ATXN6 |
| Full Name | Ataxin-6 |
| Chromosome | 12p13.31 |
| Function | encodes a protein of 818 amino acids that is central to the pathogenesis of Spinocerebellar Ataxia type 6 (SCA6), one of the most common autosomal dominant cerebellar ataxias worldwide. |
| Amino Acids | 818 aa |
| Ensembl ID | ENSG00000169189 |
| GeneCards | ATXN6 |
| Human Protein Atlas | ATXN6 |
| Calcium influx | Mediates depolarization-triggered calcium entry |
| Fast synaptic transmission | Essential for reliable synaptic signaling |
| Gene expression | Calcium influx triggers downstream signaling cascades |
| Purkinje cell output | Regulate the sole output of the cerebellar cortex |
| Synaptic plasticity | Mediate long-term depression (LTD) at parallel fiber-Purkinje cell synapses |
| Motor learning | Essential for motor coordination and adaptation |
| Cerebellum | Highest expression in Purkinje cells (the primary cell type affected in SCA6) |
| Associated Diseases | neurodegeneration |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
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