Recombinant Human 3-beta-hydroxysteroid-Delta (8),Delta (7)-isomerase (EBP), Truncated

Uniprot Id

Q15125

Target Species

Human

Target Name

EBP

Target Full Name

3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase

Target Function

Catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers.

Target Involvement

Chondrodysplasia punctata 2, X-linked dominant (CDPX2); MEND syndrome (MEND)

Target Subcellular Location

Endoplasmic reticulum membrane; Multi-pass membrane protein. Nucleus envelope. Cytoplasmic vesicle.

Target Protein Families

EBP family

Target Synonyms

EBP; 3-beta-hydroxysteroid-Delta(8,Delta(7-isomerase; Cholestenol Delta-isomerase; Delta(8-Delta(7 sterol isomerase; D8-D7 sterol isomerase; Emopamil-binding protein

Target 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 this gene cause Chondrodysplasia punctata 2 (CDPX2; also known as Conradi-Hunermann syndrome).