- Concept UI
- M0248671
- Registry Numbers
- 0
- 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.
- Terms
-
Presenilin-1
Preferred Term
Term UI
T418310
Date07/06/2000
LexicalTag
NON
ThesaurusID
NLM (2007)
-
Presenilin 1
Term UI
T408355
Date03/02/2000
LexicalTag
NON
ThesaurusID
NLM (2007)
-
S182 Protein
Term UI
T278676
Date01/01/1955
LexicalTag
NON
ThesaurusID
NLM (2007)