| Gene Symbol | SETX |
| Full Name | Senataxin |
| Aliases | SETX gene |
| Chromosome | 9q34.13 |
| Protein Type | Enzyme |
| Target Class | Enzyme |
| Function | The SETX gene encodes a protein belonging to the superfamily 1 helicases with both ATP-dependent DNA and RNA helicase activity[@suraweera2009]. |
| Mechanism of Action | Therapeutic agents targeting SETX would likely enhance RNA helicase activity or stabilize protein function to improve transcriptional regulation and DNA repair, or alternatively inhibit aberrant signaling pathways triggered by SETX dysfunction in neuronal tissues. Small molecule stabilizers or gene therapy approaches could restore deficient helicase activity in ataxia-causing mutations. |
| Primary Expression | Brain, Spinal cord, Testis, Liver |
| Druggability | Low (0.28) |
| Clinical Stage | Approved |
| Molecular Weight | 303 kDa |
| Amino Acids | 2678 aa |
| Pathways | Autophagy, Dna Damage Response, Haploinsufficiency, Rna/Dna Helicase Activity |
| UniProt ID | Q9UH73 |
| NCBI Gene ID | 23067 |
| Ensembl ID | ENSG00000112297 |
| OMIM | 604465 |
| GeneCards | SETX |
| Human Protein Atlas | SETX |
| Associated Diseases | Als, Als4, Amyotrophic Lateral Sclerosis, Amyotrophic Lateral Sclerosis 4 |
| Known Drugs/Compounds | Dna, rapamycin, R-loop, Rna, siRNA, Sirna |
| Interactions | ALS, ALS4, amyotrophic lateral sclerosis, AMYOTROPHIC LATERAL SCLEROSIS, AND, App |
| SciDEX Target | View Target Profile (2 clinical trials) |
| SciDEX Hypotheses | R-Loop Resolution Enhancement Therapy |
| KG Connections | 394 knowledge graph edges |
| Databases | GeneCardsHPASTRING |
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