24-desidrocolesterol redutase
(Redirecionado de DHCR24)
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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»
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