MSMO1 (methylsterol monooxygenase 1)

2014-11-01  

Identity

HGNC
LOCATION
4q32.3
LOCUSID
ALIAS
DESP4,ERG25,MCCPD,SC4MOL
FUSION GENES

Other Information

Locus ID:

NCBI: 6307
MIM: 607545
HGNC: 10545
Ensembl: ENSG00000052802

Variants:

dbSNP: 6307
ClinVar: 6307
TCGA: ENSG00000052802
COSMIC: MSMO1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000052802ENST00000261507Q15800
ENSG00000052802ENST00000393766Q15800
ENSG00000052802ENST00000504317D6R952
ENSG00000052802ENST00000505270D6REA2
ENSG00000052802ENST00000507013D6RDP9

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Steroid biosynthesisKEGGko00100
Steroid biosynthesisKEGGhsa00100
Metabolic pathwaysKEGGhsa01100
Cholesterol biosynthesis, squalene 2,3-epoxide => cholesterolKEGGhsa_M00101
Cholesterol biosynthesis, squalene 2,3-epoxide => cholesterolKEGGM00101
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Cholesterol biosynthesisREACTOMER-HSA-191273

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
212855102011Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay.35
227917502012Genome-wide association study identifies novel loci association with fasting insulin and insulin resistance in African Americans.31
186604892008Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.26
241447312014The role of sterol-C4-methyl oxidase in epidermal biology.10

Citation

Dessen P

MSMO1 (methylsterol monooxygenase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70520/msmo1