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
-
Finnish
-
Swedish
URI
http://www.yso.fi/onto/mesh/D053764
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