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Symbol: PSEN1 Name: presenilin 1 Entrez gene ID: 5663 Ensembl gene ID: ENSG00000080815 Species: Human (Taxid: 9606) Functional description: Probable catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (beta-amyloid precursor protein). Requires the other members of the gamma-secretase complex to have a protease activity. May play a role in intracellular signaling and gene expression or in linking chromatin to the nuclear membrane. Stimulates cell-cell adhesion though its association with the E-cadherin/catenin complex. Under conditions of apoptosis or calcium influx, cleaves E-cadherin promoting the disassembly of the E-cadherin/catenin complex and increasing the pool of cytoplasmic beta-catenin, thus negatively regulating Wnt signaling. May also play a role in hematopoiesis. [UniProt] Observation: Mutations (more than 60 different) in PSEN1 are associated with Alzheimer's disease, of which all result in increased production of abnormally long amyloid beta-protein and an increase in senile plaque formation [10934557].PSEN1 was found to be associated with longevity [17903295]. Interventions: Assays: Organismal Lifespan Classification: Aging Relevance Analysis/Source:  GenAge GenDRHomologs Inparanoids Edit \ Update (Admin) | Delete |
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