24-desidrocolesterol redutase

24-dehydrocholesterol reductase
Identificadores
Símbolos	DHCR24; KIAA0018; Nbla03646; SELADIN1; seladin-1
IDs externos	OMIM: 606418 MGI: 1922004 HomoloGene: 8850 GeneCards: DHCR24 Gene
Número EC	1.3.1.72
Ontologia do gene
Função molecular	•oxidoreductase activity; •oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor; •enzyme binding; •peptide antigen binding;
Componente celular	•núcleo; •endoplasmic reticulum; •endoplasmic reticulum membrane; •membrane; •integral to membrane;
Processo biológico	•electron transport; •cholesterol biosynthetic process; •apoptosis; •anti-apoptosis; •response to oxidative stress; •ciclo celular arrest; •protein localization; •tissue development; •membrane organization and biogenesis; •male genitalia development; •plasminogen activation; •amyloid precursor protein catabolic process; •negative regulation of caspase activity; •neuroprotection; •skin development;
	Sources: Amigo / QuickGO
Padrões de expressão do ARN
	Mais dados de expressão
Ortólogos

A 24-desidrocolesterol redutase é uma proteína que em humanos é codificada pelo gene DHCR24.^[1]^[2]

Este gene codifica uma oxiredutase FAD-dependente que catalisa a redução da dupla ligação delta-24 de intermediários de esterol durante a biossíntese do colesterol. A proteína contém uma sequência sinalizadora que a redirecciona para a membrana do retículo endoplasmático. Mutações missense neste gene têm sido associadas com a desmosterolose. Também é reportada uma expressão reduzida do gene no córtex temporal de doentes com doença de Alzheimer. Uma expressão acima do normal foi observada em células cancerígenas na glândula adrenal.^[2]

Referências

↑ Waterham HR, Koster J, Romeijn GJ, Hennekam RC, Vreken P, Andersson HC, FitzPatrick DR, Kelley RI, Wanders RJ (setembro de 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. PMC 1226055 . PMID 11519011. doi:10.1086/323473
↑ ^a ^b «Entrez Gene: DHCR24 24-dehydrocholesterol reductase»

Leitura adicional

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. PMID 7584026. doi:10.1093/dnares/1.1.27
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. PMID 7584028. doi:10.1093/dnares/1.1.47
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. PMID 12457401. doi:10.1002/ajmg.b.10873
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. PMC 139241 . PMID 12477932. doi:10.1073/pnas.242603899
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. PMID 15001630. doi:10.1210/jc.2003-031065
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. PMC 515316 . PMID 15342556. doi:10.1101/gr.2435604
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. PMC 528928 . PMID 15489334. doi:10.1101/gr.2596504
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. PMID 15577914. doi:10.1038/nature03173
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. PMID 15688385. doi:10.1002/ijc.20885
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. PMC 1383521 . PMID 16407971. doi:10.1038/sj.emboj.7600938
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. PMID 16762343. doi:10.1016/j.yexcr.2006.04.016
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. PMID 17510943. doi:10.1002/ajmg.b.30532

[pmid11519011-1] Waterham HR, Koster J, Romeijn GJ, Hennekam RC, Vreken P, Andersson HC, FitzPatrick DR, Kelley RI, Wanders RJ (setembro de 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. PMC 1226055 . PMID 11519011. doi:10.1086/323473

[entrez-2] «Entrez Gene: DHCR24 24-dehydrocholesterol reductase»

[1]

[2]