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ABHD12  
    


    
      Official symbol:  ABHD12
      Full name:  abhydrolase domain containing 12
      Location:  20p11.21
      Also known as:  dJ965G21.2, C20orf22, DKFZP434P106, ABHD12A, BEM46L2
      Entrez ID:  26090
      Ensembl ID:  ENSG00000100997
      Summary:  This gene encodes an enzyme that catalyzes the hydrolysis of 2-arachidonoyl glycerol (2-AG), the main endocannabinoid lipid transmitter that acts on cannabinoid receptors, CB1 and CB2. The endocannabinoid system is involved in a wide range of physiological processes, including neurotransmission, mood, appetite, pain appreciation, addiction behavior, and inflammation. Mutations in this gene are associated with the neurodegenerative disease, PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract), resulting from an inborn error of endocannabinoid metabolism. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jan 2011]

    

    
  Overall distribution
    
  Tissue specific distribution
    
 
  
 
   

    
  Overall distribution
    
  Tissue specific distribution
    
 
Gscore (Amp):  0.00  
Gscore (Del):  0.00  
 
   

    
  Overall distribution
    
  Tissue specific distribution
    
 
Mscore:  0.00  
 
   

    
  Overall
    
  Tissue specific
    
 
Total fusion occurrence:  8  
 
Fusions detected in 4 cancer type(s)
 
 

    
  Overall
    
  Tissue specific
    
     
   

    
      Functional class:  Enzyme
      JensenLab PubMed score:  18.29  (Percentile rank: 45.94%)
      PubTator score:  11.00  (Percentile rank: 41.72%)
      Target development/druggability level:  TchemThese targets have activities in ChEMBL or DrugCentral that satisfy the activity thresholds detailed below.
      Tractability (small molecule):  Discovery PrecedenceTargets with ligands; Targets with crystal structures with ligands
      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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