Sterol-C5-desaturase-like

{{Short description|Protein-coding gene in the species Homo sapiens}}

Lathosterol oxidase is a Δ7-sterol 5(6)-desaturase enzyme that in humans is encoded by the SC5D gene.{{cite journal | vauthors = Matsushima M, Inazawa J, Takahashi E, Suzumori K, Nakamura Y | title = Molecular cloning and mapping of a human cDNA (SC5DL) encoding a protein homologous to fungal sterol-C5-desaturase | journal = Cytogenet Cell Genet | volume = 74 | issue = 4 | pages = 252–4 |date=Jan 1997 | pmid = 8976377 | doi =10.1159/000134427 }}{{cite web | title = Entrez Gene: SC5DL sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6309}}

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.

References

{{cite journal |vauthors=Shefer S, Salen G, Batta AK, etal |title=Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes. |journal=J. Clin. Invest. |volume=96 |issue= 4 |pages= 1779–85 |year= 1995 |pmid= 7560069 | pmc=185814 |doi= 10.1172/JCI118223}}
{{cite journal | vauthors=Ves-Losada A, Brenner RR |title=Fatty acid delta 5 desaturation in rat liver cell nuclei. |journal=Mol. Cell. Biochem. |volume=142 |issue= 2 |pages= 163–70 |year= 1995 |pmid= 7770068 |doi=10.1007/BF00928937 |s2cid=43739588 }}
{{cite journal | vauthors=Takakuwa Y, Nishino H, Ishibe Y, Ishibashi T |title=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. |journal=J. Biol. Chem. |volume=269 |issue= 45 |pages= 27889–93 |year= 1994 |doi=10.1016/S0021-9258(18)46870-6 |pmid= 7961720 |doi-access=free }}
{{cite journal | vauthors=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1–2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=10.1016/0378-1119(94)90802-8 }}
{{cite journal |vauthors=Poisson JP, Dupuy RP, Sarda P, etal |title=Evidence that liver microsomes of human neonates desaturate essential fatty acids. |journal=Biochim. Biophys. Acta |volume=1167 |issue= 2 |pages= 109–13 |year= 1993 |pmid= 8466936 |doi= 10.1016/0005-2760(93)90149-4}}
{{cite journal |vauthors=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, etal |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1–2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi= 10.1016/S0378-1119(97)00411-3}}
{{cite journal | vauthors=Husselstein T, Schaller H, Gachotte D, Benveniste P |title=Delta7-sterol-C5-desaturase: molecular characterization and functional expression of wild-type and mutant alleles. |journal=Plant Mol. Biol. |volume=39 |issue= 5 |pages= 891–906 |year= 1999 |pmid= 10344195 |doi=10.1023/A:1006113919172 |s2cid=5643392 }}
{{cite journal | vauthors=Cho HP, Nakamura M, Clarke SD |title=Cloning, expression, and fatty acid regulation of the human delta-5 desaturase. |journal=J. Biol. Chem. |volume=274 |issue= 52 |pages= 37335–9 |year= 2000 |pmid= 10601301 |doi= 10.1074/jbc.274.52.37335|doi-access=free }}
{{cite journal |vauthors=Leonard AE, Kelder B, Bobik EG, etal |title=cDNA cloning and characterization of human Delta5-desaturase involved in the biosynthesis of arachidonic acid. |journal=Biochem. J. |volume=347 Pt 3 |issue= 3|pages= 719–24 |year= 2000 |pmid= 10769175 | pmc=1221008 |doi= 10.1042/0264-6021:3470719}}
{{cite journal | vauthors=Nishi S, Nishino H, Ishibashi T |title=cDNA cloning of the mammalian sterol C5-desaturase and the expression in yeast mutant. |journal=Biochim. Biophys. Acta |volume=1490 |issue= 1–2 |pages= 106–8 |year= 2000 |pmid= 10786622 |doi= 10.1016/s0167-4781(99)00248-1}}
{{cite journal | vauthors=Sugawara T, Fujimoto Y, Ishibashi T |title=Molecular cloning and structural analysis of human sterol C5 desaturase. |journal=Biochim. Biophys. Acta |volume=1533 |issue= 3 |pages= 277–84 |year= 2001 |pmid= 11731337 |doi= 10.1016/s1388-1981(01)00160-3}}
{{cite journal |vauthors=Brunetti-Pierri N, Corso G, Rossi M, etal |title=Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase. |journal=Am. J. Hum. Genet. |volume=71 |issue= 4 |pages= 952–8 |year= 2002 |pmid= 12189593 | pmc=378549 |doi= 10.1086/342668}}
{{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 | pmc=139241 |doi= 10.1073/pnas.242603899 |bibcode=2002PNAS...9916899M |doi-access=free }}
{{cite journal |vauthors=Krakowiak PA, Wassif CA, Kratz L, etal |title=Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency. |journal=Hum. Mol. Genet. |volume=12 |issue= 13 |pages= 1631–41 |year= 2004 |pmid= 12812989 |doi=10.1093/hmg/ddg172 |doi-access=free }}
{{cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |doi-access= free }}
{{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 | pmc=528928 |doi= 10.1101/gr.2596504 }}

Sterol-C5-desaturase-like

References

Further reading