Search by PDG name  
   

 

ABCD2  
    


    
      Official symbol:  ABCD2
      Full name:  ATP binding cassette subfamily D member 2
      Location:  12q12
      Also known as:  ALDR, ALDL1, ALDRP
      Entrez ID:  225
      Ensembl ID:  ENSG00000173208
      Summary:  The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. The function of this peroxisomal membrane protein is unknown; however this protein is speculated to function as a dimerization partner of ABCD1 and/or other peroxisomal ABC transporters. Mutations in this gene have been observed in patients with adrenoleukodystrophy, a severe demyelinating disease. This gene has been identified as a candidate for a modifier gene, accounting for the extreme variation among adrenoleukodystrophy phenotypes. This gene is also a candidate for a complement group of Zellweger syndrome, a genetically heterogeneous disorder of peroxisomal biogenesis. [provided by RefSeq, Jul 2008]

    

    
  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:  NA  
 
 
 

    
  Overall
    
  Tissue specific
    
     
   

    
      Functional class:  Transporter
      JensenLab PubMed score:  43.07  (Percentile rank: 60.03%)
      PubTator score:  176.27  (Percentile rank: 84.62%)
      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

    







Contact us | | Terms & Conditions.
Copyright © 2020 University of Pennsylvania. All Rights Reserved.