P49768

Presenilin 1 also known as S182, PSEN1 is located at the AD3 locus on chromosome 14q24.2. Presenilin 1 plays a critical role in processing amyloid precursor protein, which regulates amyloid-beta peptide production a key factor in Alzheimer′s disease pathogenesis. Mutations in the PSEN1 gene, which encodes Presenilin 1 have been linked to early-onset familial Alzheimer′s disease, highlighting Presenilin 1′s significance in neurodegenerative disorders. Presenilin 1 shares approximately 80% amino acid sequence identity with Presenilin 2, suggesting a conserved function within the seven-pass transmembrane receptor superfamily. Research continues to investigate whether Presenilin 1 and Presenilin 2 act as ligand-gated ion channels or G protein-coupled receptors, underscoring their potential importance in cellular signaling pathways.