Identity
HGNC
LOCATION
4q32.3
LOCUSID
ALIAS
DESP4,ERG25,MCCPD,SC4MOL
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6307
MIM: 607545
HGNC: 10545
Ensembl: ENSG00000052802
Variants:
dbSNP: 6307
ClinVar: 6307
TCGA: ENSG00000052802
COSMIC: MSMO1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33161406 | 2020 | New Homozygous Missense MSMO1 Mutation in Two Siblings with SC4MOL Deficiency Presenting with Psoriasiform Dermatitis. | 4 |
| 33161406 | 2020 | New Homozygous Missense MSMO1 Mutation in Two Siblings with SC4MOL Deficiency Presenting with Psoriasiform Dermatitis. | 4 |
| 24144731 | 2014 | The role of sterol-C4-methyl oxidase in epidermal biology. | 15 |
| 24144731 | 2014 | The role of sterol-C4-methyl oxidase in epidermal biology. | 15 |
| 22791750 | 2012 | Genome-wide association study identifies novel loci association with fasting insulin and insulin resistance in African Americans. | 41 |
| 22791750 | 2012 | Genome-wide association study identifies novel loci association with fasting insulin and insulin resistance in African Americans. | 41 |
| 21285510 | 2011 | Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay. | 52 |
| 21285510 | 2011 | Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay. | 52 |
| 18660489 | 2008 | Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. | 29 |
| 18660489 | 2008 | Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. | 29 |
Citation
Dessen P
MSMO1 (methylsterol monooxygenase 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/70520/msmo1-(methylsterol-monooxygenase-1)
