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Cholestenol Δ-isomerase (None)
- Target
- None
- Molecular classification
- Enzyme, Isomerase, Integral membrane protein
01
Overview
Cholestenol Δ-isomerase, also known as 3β-hydroxysteroid-Δ8,Δ7-isomerase or EBP (Emopamil Binding Protein), is an enzyme crucial for cholesterol biosynthesis. It catalyzes the conversion of 8(9)-cholestenol to lathosterol, a key step in the production of cholesterol within cells. Mutations or dysfunctions in EBP are linked to several genetic disorders, including Chondrodysplasia punctata 2 (CDPX2) and Mend syndrome. The protein is an integral membrane protein of the endoplasmic reticulum and binds with high affinity to certain drugs such as emopamil and azidopamil.
- Other names
- 3β-hydroxysteroid-Δ8,Δ7-isomeraseEBPEmopamil Binding ProteinCDPX2CHO2CPXCPXDMENDDelta7-cholestenol Delta7-Delta8-isomerase
02
Mechanism of action
Inhibition of cholestenol Δ-isomerase activity, leading to decreased cholesterol production and accumulation of toxic intermediates.
03
Biological functions
Cholesterol biosynthesisSteroid metabolismCatalysis
04
Disease associations
Chondrodysplasia punctata type II (CDPX2)Mend syndrome
05
Safety considerations
Accumulation of toxic sterol intermediatesX-linked inheritance of CDPX2
06
Interacting drugs
Emopamil
1 more in the full profile.
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