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Delta14-Sterol Reductase
- Molecular classification
- Enzyme, Oxidoreductase, Integral Membrane Protein
01
Overview
Delta14-Sterol reductase is an enzyme that catalyzes the reduction of the double bond at carbon 14 (C14) in sterol intermediates, a key step in the biosynthesis of cholesterol. In humans, this activity is associated with two proteins: Lamin B receptor (LBR) and TM7SF2 (DHCR14). Mutations or deficiencies can lead to disorders such as Greenberg skeletal dysplasia.
- Other names
- Δ14-Sterol Reductase4,4-dimethyl-5alpha-cholesta-8,24-dien-3beta-ol:NADP+ Δ14-oxidoreductaseLBR (Lamin B Receptor)TM7SF2DHCR14
02
Mechanism of action
Inhibition of C14-C15 double bond reduction in sterol intermediates
03
Biological functions
Cholesterol biosynthesisSteroid metabolismSterol metabolism
04
Disease associations
Greenberg skeletal dysplasiaCholesterol synthesis disorders
05
Safety considerations
Potential developmental abnormalities due to disruption of cholesterol synthesis.
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