MSMO1

MSMO1
Identifiers
Aliases	MSMO1, DESP4, ERG25, SC4MOL, MCCPD, methylsterol monooxygenase 1
External IDs	OMIM: 607545; MGI: 1913484; HomoloGene: 133932; GeneCards: MSMO1; OMA:MSMO1 - orthologs
Gene location (Human) Chr. Chromosome 4 (human) Band 4q32.3 Start 165,327,667 bp End 165,343,164 bp
Gene location (Mouse) Chr. Chromosome 8 (mouse) Band 8|8 B3.1 Start 65,171,173 bp End 65,186,826 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in skin of thigh vulva retinal pigment epithelium ganglionic eminence ventricular zone bronchial epithelial cell jejunal mucosa optic nerve liver right lobe of liver Top expressed in skin of external ear sciatic nerve lip ventral tegmental area transitional epithelium of urinary bladder dorsal tegmental nucleus medial vestibular nucleus left lobe of liver migratory enteric neural crest cell cumulus cell More reference expression data BioGPS n/a
Gene ontology Molecular function iron ion binding oxidoreductase activity C-4 methylsterol oxidase activity Cellular component integral component of membrane plasma membrane endoplasmic reticulum membrane endoplasmic reticulum membrane Biological process cholesterol biosynthetic process steroid metabolic process fatty acid metabolic process lipid metabolism steroid biosynthetic process sterol biosynthetic process lipid biosynthetic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6307 66234 Ensembl ENSG00000052802 ENSMUSG00000031604 UniProt Q15800 Q9CRA4 RefSeq (mRNA) NM_001017369 NM_006745 NM_025436 RefSeq (protein) NP_001017369 NP_006736 NP_079712 Location (UCSC) Chr 4: 165.33 – 165.34 Mb Chr 8: 65.17 – 65.19 Mb PubMed search
Wikidata
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Methylsterol monooxygenase 1 is a protein that in humans is encoded by the MSMO1 gene.

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.

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.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.