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Presenilin-1

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.

Year introduced: 2007

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Subheadings:

Tree Number(s): D12.776.543.696.500

MeSH Unique ID: D053764

Entry Terms:

  • S182 Protein
  • Presenilin 1

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