InterPro domain: IPR007905

Emopamil binding protein (EBP) is a nonglycosylated type I integralmembrane protein of endoplasmic reticulum and shows high level expression in epithelial tissues. TheEBP protein has emopamil binding domains, including the sterol acceptor site and the catalyticcentre, which show Delta8-Delta7 sterol isomerase activity. Human sterol isomerase, a homologueof mouse EBP, is suggested not only to play a role incholesterol biosynthesis, but also to affect lipoprotein internalisation. In humans, mutations of EBPare known to cause the genetic disorder of X-linked dominant chondrodysplasia punctata (CDPX2).This syndrome of humans is lethal in most males, and affected females display asymmetrichyperkeratotic skin and skeletal abnormalities [ 1 ].

1. Mouse Tdho abnormality results from double point mutations of the emopamil binding protein gene (Ebp). Mamm. Genome 12, 602-5