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Protein-coding gene in the species Homo sapiens
Methylsterol monooxygenase 1 is a protein that in humans is encoded by the MSMO1 gene .
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Function [ edit ]
Sterol-C4-methyl 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.
References [ edit ]
Further reading [ edit ]
Lu Y, Dollé ME, Imholz S, van 't Slot R, Verschuren WM, Wijmenga C, Feskens EJ, Boer JM (2008). "Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations" . J. Lipid Res . 49 (12): 2582–9. doi :10.1194/jlr.M800232-JLR200 . PMID 18660489 .
He M, Kratz LE, Michel JJ, Vallejo AN, Ferris L, Kelley RI, Hoover JJ, Jukic D, Gibson KM, Wolfe LA, Ramachandran D, Zwick ME, Vockley J (2011). "Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay" . J. Clin. Invest . 121 (3): 976–84. doi :10.1172/JCI42650 . PMC 3049385 . PMID 21285510 .
Chen G, Bentley A, Adeyemo A, Shriner D, Zhou J, Doumatey A, Huang H, Ramos E, Erdos M, Gerry N, Herbert A, Christman M, Rotimi C (2012). "Genome-wide association study identifies novel loci association with fasting insulin and insulin resistance in African Americans" . Hum. Mol. Genet . 21 (20): 4530–6. doi :10.1093/hmg/dds282 . PMC 3459464 . PMID 22791750 .
This article incorporates text from the United States National Library of Medicine , which is in the public domain .