Target intelligence / Profile preview

Methylsterol monooxygenase 1 (MSMO1)

Target
MSMO1
Molecular classification
Enzyme, Oxidoreductase, Cytochrome/monooxygenase family (homology to desaturase-hydroxylase type enzymes)
01

Overview

Methylsterol monooxygenase 1 (MSMO1) is an enzyme localized to the endoplasmic reticulum membrane that catalyzes the three-step monooxygenation required for the demethylation of methylsterol intermediates in cholesterol biosynthesis. MSMO1 is functionally analogous to the yeast ERG25 protein and contains metal-binding motifs typical of membrane desaturases-hydroxylases. Genetic defects or inhibition can cause disorders involving cholesterol metabolism, as well as multi-organ developmental syndromes. MSMO1 also has a role in the metabolism of exogenous compounds like the vitamin D analog eldecalcitol. Its core biological purpose is regulating sterol homeostasis in cells.

Other names
SC4MOLDESP4ERG25C-4 methylsterol oxidaseSterol-C4-methyl oxidaseMCCPD
02

Mechanism of action

Enzymatic inhibition: Inhibitors targeting MSMO1 could block cholesterol biosynthesis at the sterol demethylation step Modulation of MSMO1 activity affects downstream sterol intermediates and cholesterol levels

03

Biological functions

Cholesterol biosynthesisMetabolism of sterols (demethylation of 4,4-dimethyl and 4alpha-methylsterols)Drug metabolism (e.g., metabolism of eldecalcitol, a vitamin D analog)
04

Disease associations

Microcephaly, congenital cataract, and psoriasiform dermatitisAlacrima, achalasia, and impaired intellectual development syndromeDysregulation implicated in cholesterol metabolism disorders
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Safety considerations

Inhibition or loss of MSMO1 activity could lead to accumulation of methylsterol intermediates and cholesterol biosynthesis defectsPotential for developmental, neurological, and dermatological syndromes if disrupted
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Interacting drugs

Eldecalcitol (vitamin D analog metabolized by MSMO1)
07

Biomarkers

MSMO1 expression may serve as a biomarker for cholesterol biosynthesis activity and certain rare genetic syndromes

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