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skos:definition |
MSH: Integral membrane protein of Golgi and endoplasmic reticulum. Its homodimer is an essential component of the gamma-secretase complex that catalyzes the cleavage of membrane proteins such as NOTCH RECEPTORS and AMYLOID BETA-PEPTIDES precursors. PSEN1 mutations cause early-onset ALZHEIMER DISEASE type 3 that may occur as early as 30 years of age in humans.,NCI: Presenilin-1 (467 aa, ~53 kDa) is encoded by the human PSEN1 gene. This protein plays a role in the mediation of proteolysis.
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