| MSMO1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | MSMO1, DESP4, ERG25, SC4MOL, MCCPD, methylsterol monooxygenase 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 607545 MGI: 1913484 HomoloGene: 133932 GeneCards: MSMO1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Methylsterol monooxygenase 1 is a protein that in humans is encoded by the MSMO1 gene. [5]
Function
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
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000052802 - Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000031604 - Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Entrez Gene: Methylsterol monooxygenase 1". Retrieved 2017-05-24.
Further reading
- 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.
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