3-beta-hydroxysteroid-delta(8),delta(7)-isomerase; cholestenol delta-isomerase; delta(8)-delta(7) sterol isomerase; D8-D7 sterol isomerase; emopamil-binding protein (EBP)

Function

• catalyzes the conversion of delta(8)-sterols to their corresponding delta(7)-isomers

steroid biosynthesis; cholesterol biosynthesis

5-alpha-cholest-7-en-3-beta-ol = 5-alpha-cholest-8-en-3-beta-ol

Structure

belongs to the EBP family

Compartment

• endoplasmic reticulum membrane
• multi-pass membrane protein

Pathology

• defects in EBP are the cause of chondrodysplasia punctata X-linked dominant type 2

Notes

• binds to the phenylalkylamine Ca+2-ion antagonist emopamil, an anti-ischemic drug {drug not used in US}

More general terms

• transmembrane 4 protein
• isomerase

Additional terms

• cholestenol; zymostenol

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=10682
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:10682
• OMIM: https://mirror.omim.org/entry/300205
• OMIM: https://mirror.omim.org/entry/302960
• UniProt: http://www.uniprot.org/uniprot/Q15125.html