EBP Antibody – Rabbit Polyclonal

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]

EBP: Catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers. Defects in EBP are the cause of chondrodysplasia punctata X-linked dominant type 2 (CDPX2); also known as Conradi-Hunermann-Happle syndrome. CDP is a clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. The key clinical features of CDPX2 are chondrodysplasia punctata, linear ichthyosis, cataracts and short stature. CDPX2 is a rare disorder of defective cholesterol biosynthesis, biochemically characterized by an increased amount of 8-dehydrocholesterol and cholest-8(9)-en-3-beta-ol in the plasma and tissues. Belongs to the EBP family.

Protein type: Membrane protein, multi-pass; Isomerase; Endoplasmic reticulum; Lipid Metabolism - steroid biosynthesis; EC 5.3.3.5; Membrane protein, integral

Chromosomal Location of Human Ortholog: Xp11.23-p11.22

Cellular Component: endoplasmic reticulum membrane; endoplasmic reticulum; integral to plasma membrane

Molecular Function: transmembrane receptor activity; steroid delta-isomerase activity; cholestenol delta-isomerase activity; drug transporter activity; C-8 sterol isomerase activity

Biological Process: cholesterol metabolic process; multidrug transport; hemopoiesis; signal transduction; skeletal development; cholesterol biosynthetic process

Disease: Chondrodysplasia Punctata 2, X-linked Dominant