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MGP004332

Record overview

MGPD IDMGP004332
Gene ID10682
SpeciesHomo sapiens (Human)
Gene Nameemopamil binding protein (sterol isomerase)
Gene Symbol EBP
SynonymsCPX; CHO2; CPXD; CDPX2;
Alternate names3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase; 3-beta-hydroxysteroid-delta-8,delta-7-isomerase; Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome); D8-D7 sterol isomerase; cholestenol Delta-isomerase; delta(8)-Delta(7) sterol isomerase; emopamil-binding protein (sterol isomerase); sterol 8-isomerase;
ChromosomeX
Map LocationXp11.23-p11.22
EC Number5.3.3.5
SummaryThe 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]
OrthologsView orthologs and multiple alignments for EBP

Proteins

3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase
Refseq ID:NP_006570
Protein GI:5729810
UniProt ID:Q15125
mRNA ID:NM_006579
Length:230
RefSeq Status:
MTTNAGPLHPYWPQHLRLDNFVPNDRPTWHILAGLFSVTGVLVVTTWLLSGRAAVVPLGTWRRLSLCWFAVCGFIHLVIEGWFVLYYEDLLGDQAFLSQL
WKEYAKGDSRYILGDNFTVCMETITACLWGPLSLWVVIAFLRQHPLRFILQLVVSVGQIYGDVLYFLTEHRDGFQHGELGHPLYFWFYFVFMNALWLVLP
GVLVLDAVKHLTHAQSTLDAKATKAKSKKN
 
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