Sterol-C5-desaturase-like

SC5D
Identifiers
AliasesSC5D, ERG3, S5DES, SC5DL, Sterol-C5-desaturase-like, sterol-C5-desaturase
External IDsMGI: 1353611 HomoloGene: 5044 GeneCards: SC5D
Gene location (Human)
Chr.Chromosome 11 (human)[1]
Band11q23.3-q24.1Start121,292,453 bp[1]
End121,308,694 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
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 MbChr 9: 42.25 – 42.26 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Lathosterol oxidase is an enzyme that in humans is encoded by the SC5DL gene.[5][6]

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.[6]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000109929 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000032018 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. ↑ 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. doi:10.1159/000134427. PMID 8976377.
  6. 1 2 "Entrez Gene: SC5DL sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like".

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.
  • 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. 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.
  • 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: 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. 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.


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