EBP (emopamil binding protein) gene encodes an integral membrane protein of the endoplasmic reticulum. It serves as a binding protein for the phenylalkylamine Ca2+ antagonist emopamil. It is a high affinity receptor for antiischemic drugs and a potential target for antiischemic drug action. It contains sigma binding sites. The protein catalyzes the conversion of Δ8-sterols to their corresponding Δ7-isomers. Mutations in this gene cause Conradi-Hünermann syndrome characterized by aberrant punctate calcification in cartilage, or chondrodysplasia punctata (CDP).
