24-Dehydrocholesterol reductase explained

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]

See also

• Steroidogenic enzyme

Further reading

• Peri A, Danza G, Serio M . 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 . 2005 . 15954227 . 10.1007/bf03345387. 2158/308964 . 36435879 . free .
• Nomura N, Miyajima N, Sazuka T . 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 . 1995 . 7584026 . 10.1093/dnares/1.1.27 . etal. free .
• Nomura N, Miyajima N, Sazuka T . 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 . 1995 . 7584028 . 10.1093/dnares/1.1.47 . etal. free .
• Greeve I, Hermans-Borgmeyer I, Brellinger C . The human DIMINUTO/DWARF1 homolog seladin-1 confers resistance to Alzheimer's disease-associated neurodegeneration and oxidative stress. . J. Neurosci. . 20 . 19 . 7345–52 . 2001 . 11007892 . 10.1523/JNEUROSCI.20-19-07345.2000. 6772756 . etal.
• Andersson HC, Kratz L, Kelley R . Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay. . Am. J. Med. Genet. . 113 . 4 . 315–9 . 2003 . 12457401 . 10.1002/ajmg.b.10873 .
• Strausberg RL, Feingold EA, Grouse LH . 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 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . etal. free .
• Luciani P, Ferruzzi P, Arnaldi G . 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 . 2004 . 15001630 . 10.1210/jc.2003-031065 . etal. free .
• Suzuki Y, Yamashita R, Shirota M . Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. . Genome Res. . 14 . 9 . 1711–8 . 2004 . 15342556 . 10.1101/gr.2435604 . 515316 . etal.
• Gerhard DS, Wagner L, Feingold EA . 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 . 10.1101/gr.2596504 . 528928 . etal.
• Wu C, Miloslavskaya I, Demontis S . Regulation of cellular response to oncogenic and oxidative stress by Seladin-1. . Nature . 432 . 7017 . 640–5 . 2005 . 15577914 . 10.1038/nature03173 . etal. free .
• Di Stasi D, Vallacchi V, Campi V . DHCR24 gene expression is upregulated in melanoma metastases and associated to resistance to oxidative stress-induced apoptosis. . Int. J. Cancer . 115 . 2 . 224–30 . 2005 . 15688385 . 10.1002/ijc.20885 . etal. free .
• Crameri A, Biondi E, Kuehnle K . The role of seladin-1/DHCR24 in cholesterol biosynthesis, APP processing and Abeta generation in vivo. . EMBO J. . 25 . 2 . 432–43 . 2006 . 16407971 . 10.1038/sj.emboj.7600938 . 1383521 . etal.
• Benvenuti S, Saccardi R, Luciani P . 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 . 2006 . 16762343 . 10.1016/j.yexcr.2006.04.016 . etal. 2158/310641 . 22809689 . free .
• Lämsä R, Helisalmi S, Hiltunen M . The association study between DHCR24 polymorphisms and Alzheimer's disease. . Am. J. Med. Genet. B Neuropsychiatr. Genet. . 144 . 7 . 906–10 . 2007 . 17510943 . 10.1002/ajmg.b.30532 . 25107832 . etal.

Notes and References

1. Waterham HR, Koster J, Romeijn GJ, Hennekam RC, Vreken P, Andersson HC, FitzPatrick DR, Kelley RI, Wanders RJ . Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis. . Am J Hum Genet . 69 . 4 . 685–94 . Sep 2001 . 11519011 . 1226055 . 10.1086/323473 .
2. Web site: Entrez Gene: DHCR24 24-dehydrocholesterol reductase.