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PSEN1  
    


    
      Official symbol:  PSEN1
      Full name:  presenilin 1
      Location:  14q24.2
      Also known as:  FAD, S182, AD3, PS1
      Entrez ID:  5663
      Ensembl ID:  ENSG00000080815
      Summary:  Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulate gamma-secretase activity or themselves are protease enzymes. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene, the full-length nature of only some have been determined. [provided by RefSeq, Aug 2008]

    

    
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  Tissue specific distribution
    
 
  
 
   

    
  Overall distribution
    
  Tissue specific distribution
    
 
Gscore (Amp):  0.00  
Gscore (Del):  0.55  
 
Recurrently deleted in 3 cancer type(s)
   

    
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  Tissue specific distribution
    
 
Mscore:  0.00  
 
   

    
  Overall
    
  Tissue specific
    
 
Total fusion occurrence:  1  
 
Fusions detected in 1 cancer type(s)
 
 

    
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  Tissue specific
    
     
   

    
      Functional class:  Enzyme
      JensenLab PubMed score:  3394.70  (Percentile rank: 98.80%)
      PubTator score:  1509.13  (Percentile rank: 97.64%)
      Target development/druggability level:  TchemThese targets have activities in ChEMBL or DrugCentral that satisfy the activity thresholds detailed below.
      Tractability (small molecule):  Clinical PrecedenceTargets with drugs in phase II or above; Pre-clinical targets
      Tractability (antibody):  Predicted Tractable - High confidenceTargets located in the plasma membrane; Targets with GO cell component terms plasma membrane or secreted

    







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