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MGP004332

UniProt Annotations

Entry Information
Gene Nameemopamil binding protein (sterol isomerase)
Protein EntryEBP_HUMAN
UniProt IDQ15125
SpeciesHuman
Comments
Comment typeDescription
Catalytic Activity5-alpha-cholest-7-en-3-beta-ol = 5-alpha- cholest-8-en-3-beta-ol.
DiseaseChondrodysplasia punctata 2, X-linked dominant (CDPX2) [MIM:302960]: A clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. The key clinical features of CDPX2 are chondrodysplasia punctata, linear ichthyosis, cataracts and short stature. CDPX2 is a rare disorder of defective cholesterol biosynthesis, biochemically characterized by an increased amount of 8-dehydrocholesterol and cholest-8(9)- en-3-beta-ol in the plasma and tissues. {ECO:0000269|PubMed:10391218, ECO:0000269|PubMed:10391219, ECO:0000269|PubMed:10942423, ECO:0000269|PubMed:11493318}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCatalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers.
MiscellaneousBinds to the phenylalkylamine calcium-ion antagonist emopamil, an anti-ischemic drug.
PathwaySteroid biosynthesis; cholesterol biosynthesis.
SimilarityBelongs to the EBP family. {ECO:0000305}.
Subcellular LocationEndoplasmic reticulum membrane; Multi-pass membrane protein.
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