| Gene Symbol | CYP46A1 |
| Full Name | Cholesterol 24-Hydroxylase |
| Aliases | CH24H |
| Chromosome | 14 |
| Protein Type | Enzyme |
| Target Class | Enzyme |
| Function | CYP46A1 plays a critical role in cholesterol metabolism, which is intimately connected to Alzheimer's disease pathogenesis through multiple mechanisms: |
| Mechanism of Action | Small molecule activator of cholesterol 24-hydroxylase enhancing brain cholesterol turnover |
| Primary Expression | neurons of the brain that catalyzes the conversion of cholesterol to 24-hydroxycholesterol |
| Druggability | Medium (0.51) |
| Clinical Stage | Approved |
| Pathways | Cholesterol metabolism, Oxysterol synthesis, BBB transport |
| UniProt ID | G3V366 |
| Ensembl ID | ENSG00000146386 |
| GeneCards | CYP46A1 |
| Human Protein Atlas | CYP46A1 |
| Associated Diseases | Als, Alzheimer, Alzheimer's disease |
| Known Drugs/Compounds | efavirenz, EFAVIRENZ, efavirenz metabolites, lycibarbarspermidines D, neurotransmitters, spermidine |
| Interactions | ABCA1, abca2, ABCA2, AD, ADAM10, ALZHEIMER |
| SciDEX Target | View Target Profile (6 clinical trials) |
| SciDEX Hypotheses | CYP46A1 Small Molecule Activator Therapy CYP46A1-Mediated Cholesterol Reduction Prevents eI CYP46A1 Overexpression Gene Therapy (+6 more) |
| KG Connections | 871 knowledge graph edges |
| Databases | GeneCardsNCBI GeneHPASTRING |
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