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Sterol-C5-desaturase-like: Wikis

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Sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like
Identifiers
Symbols SC5DL; ERG3; S5DES; SC5D
External IDs OMIM602286 MGI1353611 HomoloGene5044 GeneCards: SC5DL Gene
RNA expression pattern
PBB GE SC5DL 211423 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 6309 235293
Ensembl ENSG00000109929 ENSMUSG00000032018
UniProt O75845 Q8BGI0
RefSeq (mRNA) NM_001024956 NM_172769
RefSeq (protein) NP_001020127 NP_766357
Location (UCSC) Chr 11:
120.67 - 120.68 Mb
Chr 9:
42.01 - 42.02 Mb
PubMed search [1] [2]

Lathosterol oxidase is an enzyme that in humans is encoded by the SC5DL 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]

References

  1. ^ Matsushima M, Inazawa J, Takahashi E, Suzumori K, Nakamura Y (Jan 1997). "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. PMID 8976377.  
  2. ^ a b "Entrez Gene: SC5DL sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6309.  

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. 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. PMID 7770068.  
  • 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. 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. 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. 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. 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. PMID 10344195.  
  • 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. 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: 719–24. 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. 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. 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. 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. doi:10.1073/pnas.242603899. 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. 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. PMID 15489334.  
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