Sterol-C5-desaturase-like explained

Lathosterol oxidase is a Δ7-sterol 5(6)-desaturase enzyme that in humans is encoded by the SC5D gene.^{[1] [2]}

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.^[2]

Further reading

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

Notes and References

1. Matsushima M, Inazawa J, Takahashi E, Suzumori K, Nakamura Y . Molecular cloning and mapping of a human cDNA (SC5DL) encoding a protein homologous to fungal sterol-C5-desaturase . Cytogenet Cell Genet . 74 . 4 . 252–4 . Jan 1997 . 8976377 . 10.1159/000134427 .
2. Web site: Entrez Gene: SC5DL sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like.