24-desidrocolesterol redutase

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24-dehydrocholesterol reductase
Identificadores
Símbolos DHCR24; KIAA0018; Nbla03646; SELADIN1; seladin-1
ID externos OMIM: 606418 MGI1922004 HomoloGene8850 GeneCards: DHCR24 Gene
Número EC 1.3.1.72
Padrões de expressão do ARN
PBB GE DHCR24 200862 at tn.png
Mais dados de expressão
Ortólogos
Espécies Humano Rato
Entrez 1718 74754
Ensembl ENSG00000116133 ENSMUSG00000034926
UniProt Q15392 Q8VCH6
RefSeq (mRNA) NM_014762 NM_053272
RefSeq (proteína) NP_055577 NP_444502
Localização (UCSC) Chr 1:
55.09 – 55.13 Mb
Chr 4:
106.06 – 106.09 Mb
Busca PubMed [1] [2]

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

  1. Waterham HR, Koster J, Romeijn GJ, Hennekam RC, Vreken P, Andersson HC, FitzPatrick DR, Kelley RI, Wanders RJ. (setembro 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. PMID 11519011.
  2. a b Entrez Gene: DHCR24 24-dehydrocholesterol reductase.

Leitura adicional[editar | editar código-fonte]

  • 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.