MSMO1 Chromosome 4
Methylsterol monooxygenase 1
Upload your DNA to see your personal genotypes for variants in MSMO1.
What This Gene Does
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]
Gene Info
Gene Group
Fatty acid hydroxylase domain containing
Locus Type
gene with protein product
Location
4q32.3
Ensembl
ENSG00000052802
Associated Conditions (2)
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
Inborn genetic diseases
Key Variants
RS760048191
Likely pathogenic
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, Inborn genetic diseases, Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
Health Risk
RS869025576
Pathogenic
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
Health Risk
RS869025577
Pathogenic
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS760048191 | Health Risk | Likely pathogenic | Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, Inborn genetic diseases, Microcephaly-congenital cataract-psoriasiform dermatitis syndrome |
| RS869025576 | Health Risk | Pathogenic | Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, Microcephaly-congenital cataract-psoriasiform dermatitis syndrome |
| RS869025577 | Health Risk | Pathogenic | Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, Microcephaly-congenital cataract-psoriasiform dermatitis syndrome |