| Gene Symbol | PSEN1 |
| Full Name | Mutant Neurons |
| Chromosome | 14q24.2 |
| Protein Type | Aspartyl protease (catalytic subunit) |
| Function | β-Secretase Cleavage: APP is first cleaved by BACE1 to generate C99 (membrane-bound C-terminal fragment) |
| Molecular Weight | 27 kDa |
| Amino Acids | 467 aa |
| Pathways | Amyloid, Autophagy, Blood-Brain Barrier, Cholesterol, Dysbiosis |
| UniProt ID | P49768 |
| NCBI Gene ID | 5663 |
| GeneCards | PSEN1 |
| Human Protein Atlas | PSEN1 |
| Altered Aβ production | Most PSEN1 mutations shift the gamma-secretase cleavage pattern toward generating more aggregation-prone Aβ42 and Aβ43 species |
| Reduced Aβ40 production | Some mutations decrease the production of the shorter, less toxic Aβ40 |
| Aβ42/40 ratio increase | The increased ratio of Aβ42 to Aβ40 is believed to accelerate amyloid plaque formation |
| Associated Diseases | AD, Aging, Als, Alzheimer |
| Known Drugs/Compounds | rapamycin, RAPAMYCIN |
| Interactions | A2M, ABCA1, ABCA7, ACE, Actin, AD |
| KG Connections | 1599 knowledge graph edges |
| Databases | GeneCardsHPASTRING |
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