MSMO1 (Methylsterol Monooxygenase 1)
Key enzyme in cholesterol biosynthesis and associated with congenital malformations
Gene Information Card
| Symbol | MSMO1 |
|---|---|
| Full Name | Methylsterol Monooxygenase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q32.3 |
| NCBI Gene ID | 6307 ncbi.nlm.nih.gov/gene/6307 |
| Ensembl ID | ENSG00000138668 |
| UniProt ID | Q15800 |
| OMIM ID | 607545 |
| HGNC ID | 10545 |
| Aliases | SC4MOL, ERG25, C4-methylsterol oxidase |
Description
MSMO1 encodes methylsterol monooxygenase 1, an enzyme involved in the cholesterol biosynthesis pathway. It catalyzes the C4-demethylation of 4,4-dimethyl-5α-cholesta-8,24-dien-3β-ol, a key step in converting lanosterol to cholesterol. Mutations in this gene cause a rare autosomal recessive disorder characterized by congenital malformations, intellectual disability, and ichthyosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital malformations with intellectual disability and ichthyosis | Loss-of-function mutations impair cholesterol synthesis, leading to accumulation of toxic sterol intermediates and developmental defects. | ClinVar, OMIM |
| Cholesterol biosynthesis disorder | Deficiency disrupts membrane integrity and signaling pathways. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Adrenal gland | 8.3 | Medium |
| Small intestine | 6.1 | Medium |
| Brain | 2.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | High expression |
| HeLa | 4.8 | Moderate expression |
| K562 | 1.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.278G>A (p.Arg93His) | Missense | Rare | Reduced enzyme activity |
| c.487C>T (p.Arg163Trp) | Missense | Rare | Loss of function |
| c.1A>G (p.Met1Val) | Start loss | Rare | Complete loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations reduce or abolish enzyme activity, leading to sterol accumulation.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • C-4 methylsterol oxidase activity (GO:0000245) | • cholesterol biosynthetic process (GO:0006695) |
| • sterol biosynthetic process (GO:0016126) | • endoplasmic reticulum (GO:0005783) |
Pathways
• Cholesterol biosynthesis (Reactome: R-HSA-191273)
• Metabolism of steroids (Reactome: R-HSA-8957322)
Protein Summary
MSMO1 is a 293-amino acid protein localized to the endoplasmic reticulum membrane. It contains a non-heme iron-binding domain and functions as a C-4 methylsterol oxidase, requiring molecular oxygen and NAD(P)H. The protein is essential for normal cholesterol production and embryonic development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MSMO1 Knockout HEK293 Cell Line | EDJ-KQ5712 | Human | 6307 | Details Get a Quote |
| MSMO1 Knockout A-549 Cell Line | EDJ-KQ29089 | Human | 6307 | Details Get a Quote |
| MSMO1 Knockout HCT 116 Cell Line | EDJ-KQ29090 | Human | 6307 | Details Get a Quote |
| MSMO1 Knockout HeLa Cell Line | EDJ-KQ29091 | Human | 6307 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
