(Emopamil Binding Protein (Sterol Isomerase) (EBP))
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].
Ausavarat, Tanpaiboon, Tongkobpetch, Suphapeetiporn, Shotelersuk: "Two novel EBP mutations in Conradi-Hünermann-Happle syndrome." in: European journal of dermatology : EJD, Vol. 18, Issue 4, pp. 391-3, (2008) (PubMed).
Lu, Dollé, Imholz, van t Slot, Verschuren, Wijmenga, Feskens, Boer: "Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations." in: Journal of lipid research, Vol. 49, Issue 12, pp. 2582-9, (2008) (PubMed).
Steijlen, van Geel, Vreeburg, Marcus-Soekarman, Spaapen, Castelijns, Willemsen, van Steensel: "Novel EBP gene mutations in Conradi-Hünermann-Happle syndrome." in: The British journal of dermatology, Vol. 157, Issue 6, pp. 1225-9, (2007) (PubMed).