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Gene : EBP Homo sapiens

Name  ? EBP cholestenol delta-isomerase Cytological Location  Xp11.23
Brief Description  EBP cholestenol delta-isomerase
Description  The protein encoded by this gene is an integral membrane protein of the endoplasmic reticulum. It is a high affinity binding protein for the antiischemic phenylalkylamine Ca2+ antagonist [3H]emopamil and the photoaffinity label [3H]azidopamil. It is similar to sigma receptors and may be a member of a superfamily of high affinity drug-binding proteins in the endoplasmic reticulum of different tissues. This protein shares structural features with bacterial and eukaryontic drug transporting proteins. It has four putative transmembrane segments and contains two conserved glutamate residues which may be involved in the transport of cationic amphiphilics. Another prominent feature of this protein is its high content of aromatic amino acid residues (>23%) in its transmembrane segments. These aromatic amino acid residues have been suggested to be involved in the drug transport by the P-glycoprotein. Mutations in this gene cause Chondrodysplasia punctata 2 (CDPX2; also known as Conradi-Hunermann syndrome). [provided by RefSeq, Jul 2008]
  • synonyms:
  • OTTHUMG00000034482,
  • NM_006579,
  • emopamil binding protein (sterol isomerase),
  • CPX,
  • CHO2,
  • sterol 8-isomerase,
  • uc004djx.5,
  • EBP,
  • MEND,
  • CPXD,
  • CDPX2,
  • CPXD,
  • 3-beta-hydroxysteroid-delta-8,delta-7-isomerase,
  • HGNC:3133,
  • CPX,
  • Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome),
  • CDPX2,
  • emopamil-binding protein (sterol isomerase),
  • CHO2,
  • Z37986
  • identifiers:
  • 10682,
  • ENSG00000147155,
  • EBP

Genome feature

Region: gene ? Length: 6909  
Location: X:48521808-48528716 Cyto location: Xp11.23


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Disease

2 Diseases

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3753 SN Ps

5 Cross References

19 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results