Previous symbols: SC4MOL. Aliases: DESP4, ERG25.
MSMO1 (methylsterol monooxygenase 1) is named by 1 disorder entry.
ai-gene-review gives MSMO1's core molecular function as C-4 methylsterol oxidase activity, acting in cholesterol biosynthetic process. MSMO1 is the oxidative half of sterol C4-demethylation: a non-heme di-iron enzyme of the endoplasmic reticulum membrane that oxidises a C4 methyl group to a carboxylate, which NSDHL then removes.
MSMO1 Deficiency types MSMO1 as causative, with the variant origin recorded as germline. The gene sits on the pathophysiology node MSMO1 Deficiency.
The KB's MSMO1 node and ai-gene-review share the process cholesterol biosynthetic process by exact GO identifier: the KB marks it decreased, ai-gene-review gives it as the normal role.
ClinGen classifies MSMO1 for 0 diseases, so there is no external validity tier to copy onto the record.
Underlined values are claims re-computed from the knowledge base each time this page is built. The tables below are the source of truth.
ai-gene-review has this gene at status INITIALIZED; the description is shown only once the review is complete. Read the draft upstream.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| MSMO1 Deficiency | causative germline |
mechanism: MSMO1 Deficiency
animal model: Danio rerio
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.