Target intelligence / Profile preview

Delta(14)-sterol reductase (C14SR)

Target: C14SR
Molecular classification: Enzyme, Oxidoreductase

Overview

Delta(14)-sterol reductase (C14SR) is an enzyme that catalyzes the reduction of the C14-unsaturated bond in sterol intermediates during cholesterol biosynthesis. It is encoded by the TM7SF2 and LBR genes. TM7SF2 is located in the endoplasmic reticulum, while LBR is located at the inner nuclear envelope and also plays a role in myeloid cell differentiation. Mutations in these genes can lead to disorders such as Greenberg Dysplasia.

Other names: Delta 14-reductaseSterol Delta 14-reductase

Mechanism of action

Inhibition of Delta(14)-sterol reductase activity

Biological functions

Cholesterol biosynthesisSteroid biosynthesisMyeloid cell differentiationLipid metabolism

Disease associations

Greenberg DysplasiaSkeletal dysplasia

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