Sterol-C5-desaturase-like

SC5D
Identifiers
Aliases	SC5D, ERG3, S5DES, SC5DL, Sterol-C5-desaturase-like, sterol-C5-desaturase
External IDs	OMIM: 602286; MGI: 1353611; HomoloGene: 5044; GeneCards: SC5D; OMA:SC5D - orthologs
Gene location (Human) Chr. Chromosome 11 (human) Band 11q23.3-q24.1 Start 121,292,681 bp End 121,313,410 bp
Gene location (Mouse) Chr. Chromosome 9 (mouse) Band 9|9 A5.1 Start 42,162,891 bp End 42,175,552 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in pons right lobe of liver corpus epididymis seminal vesicula jejunal mucosa islet of Langerhans superior vestibular nucleus vulva ganglionic eminence retinal pigment epithelium Top expressed in left lobe of liver seminal vesicula jejunum epithelium of stomach anterior horn of spinal cord white adipose tissue calvaria esophagus subcutaneous adipose tissue ileum More reference expression data BioGPS More reference expression data
Gene ontology Molecular function iron ion binding oxidoreductase activity delta7-sterol 5(6)-desaturase activity C-5 sterol desaturase activity Cellular component integral component of membrane endoplasmic reticulum membrane intracellular membrane-bounded organelle endoplasmic reticulum membrane Biological process steroid metabolic process sterol biosynthetic process cholesterol biosynthetic process via desmosterol lipid metabolism steroid biosynthetic process cholesterol biosynthetic process via lathosterol lipid biosynthetic process regulation of cholesterol biosynthetic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6309 235293 Ensembl ENSG00000109929 ENSMUSG00000032018 UniProt O75845 O88822 RefSeq (mRNA) NM_006918 NM_001024956 NM_172769 RefSeq (protein) NP_001020127 NP_008849 NP_766357 Location (UCSC) Chr 11: 121.29 – 121.31 Mb Chr 9: 42.16 – 42.18 Mb PubMed search
Wikidata
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Lathosterol oxidase is a Δ7-sterol 5(6)-desaturase enzyme that in humans is encoded by the SC5D gene.

This gene encodes an enzyme of cholesterol biosynthesis. The encoded protein catalyzes the conversion of lathosterol into 7-dehydrocholesterol. Mutations in this gene have been associated with lathosterolosis. Alternatively spliced transcript variants encoding the same protein have been described.

Further reading

• Shefer S, Salen G, Batta AK, et al. (1995). "Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes". J. Clin. Invest. 96 (4): 1779–85. doi:10.1172/JCI118223. PMC 185814. PMID 7560069.
• Ves-Losada A, Brenner RR (1995). "Fatty acid delta 5 desaturation in rat liver cell nuclei". Mol. Cell. Biochem. 142 (2): 163–70. doi:10.1007/BF00928937. PMID 7770068. S2CID 43739588.
• Takakuwa Y, Nishino H, Ishibe Y, Ishibashi T (1994). "Properties and kinetics of membrane-bound enzymes when both the enzyme and substrate are components of the same microsomal membrane. Studies on lathosterol 5-desaturase". J. Biol. Chem. 269 (45): 27889–93. doi:10.1016/S0021-9258(18)46870-6. PMID 7961720.
• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
• Poisson JP, Dupuy RP, Sarda P, et al. (1993). "Evidence that liver microsomes of human neonates desaturate essential fatty acids". Biochim. Biophys. Acta. 1167 (2): 109–13. doi:10.1016/0005-2760(93)90149-4. PMID 8466936.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
• Husselstein T, Schaller H, Gachotte D, Benveniste P (1999). "Delta7-sterol-C5-desaturase: molecular characterization and functional expression of wild-type and mutant alleles". Plant Mol. Biol. 39 (5): 891–906. doi:10.1023/A:1006113919172. PMID 10344195. S2CID 5643392.
• Cho HP, Nakamura M, Clarke SD (2000). "Cloning, expression, and fatty acid regulation of the human delta-5 desaturase". J. Biol. Chem. 274 (52): 37335–9. doi:10.1074/jbc.274.52.37335. PMID 10601301.
• Leonard AE, Kelder B, Bobik EG, et al. (2000). "cDNA cloning and characterization of human Delta5-desaturase involved in the biosynthesis of arachidonic acid". Biochem. J. 347 Pt 3 (3): 719–24. doi:10.1042/0264-6021:3470719. PMC 1221008. PMID 10769175.
• Nishi S, Nishino H, Ishibashi T (2000). "cDNA cloning of the mammalian sterol C5-desaturase and the expression in yeast mutant". Biochim. Biophys. Acta. 1490 (1–2): 106–8. doi:10.1016/s0167-4781(99)00248-1. PMID 10786622.
• Sugawara T, Fujimoto Y, Ishibashi T (2001). "Molecular cloning and structural analysis of human sterol C5 desaturase". Biochim. Biophys. Acta. 1533 (3): 277–84. doi:10.1016/s1388-1981(01)00160-3. PMID 11731337.
• Brunetti-Pierri N, Corso G, Rossi M, et al. (2002). "Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase". Am. J. Hum. Genet. 71 (4): 952–8. doi:10.1086/342668. PMC 378549. PMID 12189593.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Krakowiak PA, Wassif CA, Kratz L, et al. (2004). "Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency". Hum. Mol. Genet. 12 (13): 1631–41. doi:10.1093/hmg/ddg172. PMID 12812989.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.