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 CT contraindications
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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