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Concept information

Preferred term

Presenilin-1  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • Presenilin 1
  • S182 Protein

Scope note

  • 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.

History note

  • 2007

In other languages

URI

http://www.yso.fi/onto/mesh/D053764

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