24-Dehydrocholesterol reductase

DHCR24
Identifiers
Aliases	DHCR24, DCE, Nbla03646, SELADIN1, seladin-1, 24-dehydrocholesterol reductase
External IDs	OMIM: 606418; MGI: 1922004; HomoloGene: 8850; GeneCards: DHCR24; OMA:DHCR24 - orthologs
EC number	1.3.1.72
Gene location (Human)
Chr.	Chromosome 1 (human)
End	54,887,195 bp
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	106,446,310 bp
RNA expression pattern
	Top expressed in
	right adrenal cortex; ; left adrenal gland; ; left adrenal cortex; ; C1 segment; ; right lobe of liver; ; lower lobe of lung; ; skin of thigh; ; skin of arm; ; vulva; ; nipple;
	Top expressed in
	lip; ; skin of external ear; ; gastrula; ; yolk sac; ; intestinal villus; ; left lobe of liver; ; skin of abdomen; ; tail of embryo; ; epidermis; ; hair follicle;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	peptide antigen binding; flavin adenine dinucleotide binding; oxidoreductase activity, acting on CH-OH group of donors; delta24(24-1) sterol reductase activity; oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor; enzyme binding; oxidoreductase activity; delta24-sterol reductase activity; FAD binding;
Cellular component	cytoplasm; integral component of membrane; cytosol; Golgi apparatus; endoplasmic reticulum membrane; membrane; Golgi membrane; endoplasmic reticulum; cytoskeleton; nucleus;
Biological process	steroid biosynthetic process; protein localization; steroid metabolic process; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; male genitalia development; sterol biosynthetic process; lipid metabolism; negative regulation of apoptotic process; cholesterol metabolic process; response to oxidative stress; regulation of neuron death; tissue development; cholesterol biosynthetic process via lathosterol; response to hormone; sterol metabolic process; membrane organization; Ras protein signal transduction; plasminogen activation; cholesterol biosynthetic process via desmosterol; amyloid precursor protein catabolic process; negative regulation of cell population proliferation; skin development; apoptotic process; cholesterol biosynthetic process;
	Sources:Amigo / QuickGO
Orthologs
	1718
	74754
	ENSG00000116133
	ENSMUSG00000034926
	Q15392
	Q8VCH6
	NM_014762
	NM_053272
	NP_055577
	NP_444502
	Wikidata
View/Edit Human	View/Edit Mouse

24-Dehydrocholesterol reductase is a protein that in humans is encoded by the DHCR24 gene.^[5]^[6]

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.^[6]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000116133 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000034926 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Waterham HR, Koster J, Romeijn GJ, Hennekam RC, Vreken P, Andersson HC, FitzPatrick DR, Kelley RI, Wanders RJ (Sep 2001). "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. doi:10.1086/323473. PMC 1226055. PMID 11519011.
^ ^a ^b "Entrez Gene: DHCR24 24-dehydrocholesterol reductase".

External links

Human DHCR24 genome location and DHCR24 gene details page in the UCSC Genome Browser.

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. doi:10.1007/bf03345387. hdl:2158/308964. PMID 15954227. S2CID 36435879.
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. doi:10.1523/JNEUROSCI.20-19-07345.2000. PMC 6772756. 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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. 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. PMC 515316. 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. PMC 528928. 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. PMC 1383521. 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. hdl:2158/310641. PMID 16762343. S2CID 22809689.
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. S2CID 25107832.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000116133 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000034926 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid11519011-5] Waterham HR, Koster J, Romeijn GJ, Hennekam RC, Vreken P, Andersson HC, FitzPatrick DR, Kelley RI, Wanders RJ (Sep 2001). "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. doi:10.1086/323473. PMC 1226055. PMID 11519011.

[entrez-6] "Entrez Gene: DHCR24 24-dehydrocholesterol reductase".

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[5]

[6]

24-Dehydrocholesterol reductase

See also

References

External links

Further reading