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SC5D  
    


    
      Official symbol:  SC5D
      Full name:  sterol-C5-desaturase
      Location:  11q23.3-q24.1
      Also known as:  SC5DL
      Entrez ID:  6309
      Ensembl ID:  ENSG00000109929
      Summary:  This gene encodes an enzyme of cholesterol biosynthesis. The encoded protein catalyzes the conversion of lathosterol into 7-dehydrocholesterol. Mutations in this gene have been associated with lathosterolosis. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]

    

    
  Overall distribution
    
  Tissue specific distribution
    
 
  
 
   

    
  Overall distribution
    
  Tissue specific distribution
    
 
Gscore (Amp):  0.00  
Gscore (Del):  0.83  (Driver)
 
Recurrently deleted in 4 cancer type(s)
   

    
  Overall distribution
    
  Tissue specific distribution
    
 
Mscore:  0.00  
 
   

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

    
  Overall
    
  Tissue specific
    
     
   

    
      Functional class:  Enzyme
      JensenLab PubMed score:  28.32  (Percentile rank: 53.06%)
      PubTator score:  14.41  (Percentile rank: 46.35%)
      Target development/druggability level:  TbioThese targets do not have known drug or small molecule activities that satisfy the activity thresholds detailed below AND satisfy one or more of the following criteria: 1) target is above the cutoff criteria for Tdark; 2) target is annotated with a Gene Ontology Molecular Function or Biological Process leaf term(s) with an Experimental Evidence code.
      Tractability (small molecule):  N/A
      Tractability (antibody):  Predicted Tractable - Medium to low confidenceTargets with GO cell component terms plasma membrane or secreted with low or unknown confidence; Targets with predicted signal peptide and transmembrane domains; GO cell component - medium confidence; Human Protein Atlas - high confidence

    







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