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FLASH GENE
Symbol EBP contributors: mct/npt - updated : 19-01-2010
HGNC name emopamil binding protein (sterol isomerase)
HGNC id 3133
Corresponding disease
CDPX2A chondrodysplasia punctata 2, Conradi-Hünermann type, dominant
Location Xp11.23      Physical location : 48.380.163 - 48.387.102
Synonym name
  • 3-beta-hydrxysteroid-delta 8-delta 7, isomerase
  • sterol 8-isomerase
  • cholestenol delta-isomerase
  • D8-D7 sterol isomerase
  • Synonym symbol(s) CPX, CHO2, CPXD
    EC.number 5.3.3.5
    DNA
    TYPE functioning gene
    STRUCTURE 6.94 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status inconsistent : contradictory evidence
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 1191 - 230 - Moebius (1999)
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveintestine    
     liver    
    Endocrineadrenal gland    
    Reproductivefemale systemovary   
     male systemtestis   
     male systemprostate   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to guinea pig Ebp
    Homologene
    FAMILY
  • superfamily of high affinity drug-binding proteins
  • EBP family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth
    basic FUNCTION
  • 3 hydroxysteroid-delta 8-delta 7-isomerase beta
  • converting cholesterol 8(9)-en 3 beta to bathosterol (cholest-7en-3 beta-ol)
  • may be involved in the drug transport by the P-glycoprotein
  • cholesterol biosynthesis pathway
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • emopamil (protein for the antiischemic phenylalkylamine Ca2+ antagonist )
  • lamoxifen binding
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CDPX2A
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS