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Official Full Name
emopamil binding protein (sterol isomerase)
Background
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 thisgene cause Chondrodysplasia punctata 2 (CDPX2; also known as Conradi-Hunermann syndrome).
Synonyms
EBP; emopamil binding protein (sterol isomerase); CDPX2, emopamil binding protein (sterol isomerase); 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase; 3 beta hydroxysteroid delta 8; delta 7 isomerase; CHO2; Chondrodysplasia punctata 2; X linked dominan; X linked dominant (Happle syndrome); CPX; CPXD; sterol 8 isomerase; sterol 8-isomerase; D8-D7 sterol isomerase; cholestenol Delta-isomerase; delta(8)-Delta(7) sterol isomerase; emopamil-binding protein (sterol isomerase); 3-beta-hydroxysteroid-delta-8,delta-7-isomerase; Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome); CDPX2; zgc:91895

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