Family

Emopamil-binding protein (IPR007905)

Short name: EBP

Family relationships

None.

Description

Emopamil binding protein (EBP) is a nonglycosylated type I integral membrane protein of endoplasmic reticulum and shows high level expression in epithelial tissues. The EBP 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 homologue of mouse EBP, is suggested not only to play a role in cholesterol biosynthesis, but also to affect lipoprotein internalisation. In humans, mutations of EBP are 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 asymmetric hyperkeratotic skin and skeletal abnormalities [PMID: 11471053].

GO terms

Biological Process

GO:0016125 sterol metabolic process

Molecular Function

GO:0047750 cholestenol delta-isomerase activity

Cellular Component

GO:0016021 integral component of membrane

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PANTHER
Pfam