Aliases for MSMO1 Gene
External Ids for MSMO1 Gene
Previous HGNC Symbols for MSMO1 Gene
Previous GeneCards Identifiers for MSMO1 Gene
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]
GeneCards Summary for MSMO1 Gene
MSMO1 (Methylsterol Monooxygenase 1) is a Protein Coding gene. Diseases associated with MSMO1 include Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis and Dermatitis. Among its related pathways are cholesterol biosynthesis III (via desmosterol) and Metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and C-4 methylsterol oxidase activity. An important paralog of this gene is CH25H.
UniProtKB/Swiss-Prot Summary for MSMO1 Gene
Catalyzes the three-step monooxygenation required for the demethylation of 4,4-dimethyl and 4alpha-methylsterols, which can be subsequently metabolized to cholesterol (PubMed:21285510, PubMed:28673550, PubMed:23583456, PubMed:26114596). Also involved in drug metabolism, as it can metabolize eldecalcitol (ED-71 or 1alpha,25-dihydroxy-2beta-(3-hydroxypropoxy)-cholecalciferol), a second-generation vitamin D analog, into 1alpha,2beta,25-trihydroxy vitamin D3; this reaction occurs via enzymatic hydroxylation and spontaneous O-dehydroxypropylation (PubMed:26038696).