Search on: PRESENILIN-1 
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Descriptor English:   Presenilin-1 
Descriptor Spanish:   Presenilina-1 
Descriptor Portuguese:   Presenilina-1 
Synonyms English:   Presenilin 1
S182 Protein  
Tree Number:   D12.776.543.696.500
Definition English:   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 English:   2007 
Allowable Qualifiers English:  
AD administration & dosage AE adverse effects
AG agonists AN analysis
AI antagonists & inhibitors BI biosynthesis
BL blood CF cerebrospinal fluid
CS chemical synthesis CH chemistry
CL classification DF deficiency
DE drug effects EC economics
GE genetics HI history
IM immunology IP isolation & purification
ME metabolism PK pharmacokinetics
PD pharmacology PH physiology
PO poisoning RE radiation effects
SE secretion ST standards
SD supply & distribution TU therapeutic use
TO toxicity UL ultrastructure
UR urine  
Record Number:   52334 
Unique Identifier:   D053764 

Occurrence in VHL:
 

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