Aliases for EBP Gene
External Ids for EBP Gene
Previous Symbols for EBP Gene
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]
GeneCards Summary for EBP Gene
EBP (Emopamil Binding Protein (Sterol Isomerase)) is a Protein Coding gene. Diseases associated with EBP include chondrodysplasia punctata 2, x-linked and chondrodysplasia punctata. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include transmembrane signaling receptor activity and C-8 sterol isomerase activity. An important paralog of this gene is EBPL.
UniProtKB/Swiss-Prot for EBP Gene
Catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers