v5.1.0.3
Glycine data from LIS
Type | Family |
Description | Emopamil binding protein (EBP) is a nonglycosylated type I integral membrane 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 catalytic centre, which show Delta8-Delta7 sterol isomerase activity. Human sterol isomerase, a homologueof mouse EBP, is suggested not only to play a role in cholesterol 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 [ ]. |
Short Name | EBP |