| Gene Symbol | SLC6A3 |
| Chromosome | 5p15.33 |
| Protein Type | Transporter |
| Function | encodes a transmembrane solute carrier in the SLC6 family. |
| Molecular Weight | 79 kDa |
| Pathways | Akt, Cell Cycle, Dopamine Biosynthesis, Dopaminergic Synapse Function, Pi3K |
| GeneCards | SLC6A3 |
| Human Protein Atlas | SLC6A3 |
| Variant Class | Mechanism |
| Trafficking-defective | Impaired folding or ER export |
| Transport-impaired | Normal trafficking but reduced Vmax |
| Complex | Combined defects |
| Finding | Interpretation |
| Bilateral striatal reduction | Consistent with Parkinsonian syndrome |
| Preserved DAT binding | Suggests non-degenerative cause (functional parkinsonism, psychogenic tremor) |
| Associated Diseases | ALS, Alzheimer, Alzheimer'S Disease, Anxiety |
| Known Drugs/Compounds | levodopa |
| Interactions | JUN, TUBB, SNCA, TUBB3, TUBB4B, PER |
| KG Connections | 326 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |