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24-dehydrocholesterol reductase: Wikis

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24-dehydrocholesterol reductase
Identifiers
Symbols DHCR24; KIAA0018; Nbla03646; SELADIN1; seladin-1
External IDs OMIM606418 MGI1922004 HomoloGene8850 GeneCards: DHCR24 Gene
EC number 1.3.1.72
RNA expression pattern
PBB GE DHCR24 200862 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 1718 74754
Ensembl ENSG00000116133 ENSMUSG00000034926
UniProt Q15392 Q8VCH6
RefSeq (mRNA) NM_014762 NM_053272
RefSeq (protein) NP_055577 NP_444502
Location (UCSC) Chr 1:
55.09 - 55.13 Mb
Chr 4:
106.06 - 106.09 Mb
PubMed search [1] [2]

24-dehydrocholesterol reductase is a protein that in humans is encoded by the DHCR24 gene.[1][2]

This gene encodes a flavin adenine dinucleotide (FAD)-dependent oxidoreductase which catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis. The protein contains a leader sequence that directs it to the endoplasmic reticulum membrane. Missense mutations in this gene have been associated with desmosterolosis. Also, reduced expression of the gene occurs in the temporal cortex of Alzheimer disease patients and overexpression has been observed in adrenal gland cancer cells.[2]

References

Further reading

  • Peri A, Danza G, Serio M (2005). "Seladin-1 as a target of estrogen receptor activation in the brain: a new gene for a rather old story?". J. Endocrinol. Invest. 28 (3): 285–93. PMID 15954227.  
  • Nomura N, Miyajima N, Sazuka T, et al. (1995). "Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1.". DNA Res. 1 (1): 27–35. doi:10.1093/dnares/1.1.27. PMID 7584026.  
  • Nomura N, Miyajima N, Sazuka T, et al. (1995). "Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1 (supplement).". DNA Res. 1 (1): 47–56. doi:10.1093/dnares/1.1.47. PMID 7584028.  
  • Greeve I, Hermans-Borgmeyer I, Brellinger C, et al. (2001). "The human DIMINUTO/DWARF1 homolog seladin-1 confers resistance to Alzheimer's disease-associated neurodegeneration and oxidative stress.". J. Neurosci. 20 (19): 7345–52. PMID 11007892.  
  • Andersson HC, Kratz L, Kelley R (2003). "Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay.". Am. J. Med. Genet. 113 (4): 315–9. doi:10.1002/ajmg.b.10873. PMID 12457401.  
  • 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.  
  • Luciani P, Ferruzzi P, Arnaldi G, et al. (2004). "Expression of the novel adrenocorticotropin-responsive gene selective Alzheimer's disease indicator-1 in the normal adrenal cortex and in adrenocortical adenomas and carcinomas.". J. Clin. Endocrinol. Metab. 89 (3): 1332–9. doi:10.1210/jc.2003-031065. PMID 15001630.  
  • Suzuki Y, Yamashita R, Shirota M, et al. (2004). "Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.". Genome Res. 14 (9): 1711–8. doi:10.1101/gr.2435604. PMID 15342556.  
  • 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.  
  • Wu C, Miloslavskaya I, Demontis S, et al. (2005). "Regulation of cellular response to oncogenic and oxidative stress by Seladin-1.". Nature 432 (7017): 640–5. doi:10.1038/nature03173. PMID 15577914.  
  • Di Stasi D, Vallacchi V, Campi V, et al. (2005). "DHCR24 gene expression is upregulated in melanoma metastases and associated to resistance to oxidative stress-induced apoptosis.". Int. J. Cancer 115 (2): 224–30. doi:10.1002/ijc.20885. PMID 15688385.  
  • Crameri A, Biondi E, Kuehnle K, et al. (2006). "The role of seladin-1/DHCR24 in cholesterol biosynthesis, APP processing and Abeta generation in vivo.". Embo J. 25 (2): 432–43. doi:10.1038/sj.emboj.7600938. PMID 16407971.  
  • Benvenuti S, Saccardi R, Luciani P, et al. (2006). "Neuronal differentiation of human mesenchymal stem cells: changes in the expression of the Alzheimer's disease-related gene seladin-1.". Exp. Cell Res. 312 (13): 2592–604. doi:10.1016/j.yexcr.2006.04.016. PMID 16762343.  
  • Lämsä R, Helisalmi S, Hiltunen M, et al. (2007). "The association study between DHCR24 polymorphisms and Alzheimer's disease.". Am. J. Med. Genet. B Neuropsychiatr. Genet. 144 (7): 906–10. doi:10.1002/ajmg.b.30532. PMID 17510943.  
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