emopamil-binding protein

(redirected from emopamil-binding protein sterol isomerase)

emopamil-binding protein

A protein encoded by EBP on chromosome Xp11.23-p11.22, which is an integral membrane protein of the endoplasmic reticulum and catalyses the conversion of delta8 sterols to delta7-isomers, and which may be involved in drug transport by P glycoprotein.

Molecular pathology
EBP mutations cause chondrodysplasia punctata type 2 (Conradi-Hünermann syndrome).
Mentioned in ?