EBP Antibody

Background:

The protein encoded by this gene is an integral membraneprotein of the endoplasmic reticulum. It is a high affinity bindingprotein for the antiischemic phenylalkylamine Ca2+ antagonist[3H]emopamil and the photoaffinity label [3H]azidopamil. It issimilar to sigma receptors and may be a member of a superfamily ofhigh affinity drug-binding proteins in the endoplasmic reticulum ofdifferent tissues. This protein shares structural features withbacterial and eukaryontic drug transporting proteins. It has fourputative transmembrane segments and contains two conservedglutamate residues which may be involved in the transport ofcationic amphiphilics. Another prominent feature of this protein isits high content of aromatic amino acid residues (>23%) in itstransmembrane segments. These aromatic amino acid residues havebeen suggested to be involved in the drug transport by theP-glycoprotein. Mutations in this gene cause Chondrodysplasiapunctata 2 (CDPX2; also known as Conradi-Hunermann syndrome).