MSMO1

Chr 4AR

methylsterol monooxygenase 1

Also known as: DESP4, ERG25, MCCPD, SC4MOL

NCBI Gene: 6307 ENSG00000052802 UniProt: Q15800 OMIM: 607545

MSMO1 encodes a sterol C4-methyl oxidase that catalyzes the demethylation of sterol intermediates in cholesterol biosynthesis through three-step monooxygenation reactions in the endoplasmic reticulum. Autosomal recessive mutations cause a congenital disorder characterized by microcephaly, cataracts, and psoriasiform dermatitis. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.70), suggesting some tolerance to disruption.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Sterol-C4-mehtyl oxidase-like protein was isolated based on its similarity to the yeast ERG25 protein. It contains a set of putative metal binding motifs with similarity to that seen in a family of membrane desaturases-hydroxylases. The protein is localized to the endoplasmic reticulum membrane and is believed to function in cholesterol biosynthesis. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Microcephaly, congenital cataract, and psoriasiform dermatitisMIM #616834

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.70

LOEUF

Mechanism· predicted