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Li, V. CYP27A1 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4431 (accessed on 29 September 2026).
Li V. CYP27A1 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4431. Accessed September 29, 2026.
Li, Vivi. "CYP27A1 Gene" Encyclopedia, https://encyclopedia.pub/entry/4431 (accessed September 29, 2026).
Li, V. (2020, December 23). CYP27A1 Gene. In Encyclopedia. https://encyclopedia.pub/entry/4431
Li, Vivi. "CYP27A1 Gene." Encyclopedia. Web. 23 December, 2020.
CYP27A1 Gene
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/cyp27a1

Cytochrome P450 Family 27 Subfamily A Member 1

genes

References

  1. Araya Z, Tang W, Wikvall K. Hormonal regulation of the human sterol27-hydroxylase gene CYP27A1. Biochem J. 2003 Jun 1;372(Pt 2):529-34.
  2. Björkhem I, Hansson M. Cerebrotendinous xanthomatosis: an inborn error in bileacid synthesis with defined mutations but still a challenge. Biochem Biophys Res Commun. 2010 May 21;396(1):46-9. doi: 10.1016/j.bbrc.2010.02.140. Review.
  3. Björkhem I. Cerebrotendinous xanthomatosis. Curr Opin Lipidol. 2013Aug;24(4):283-7. doi: 10.1097/MOL.0b013e328362df13. Review.
  4. Gallus GN, Dotti MT, Federico A. Clinical and molecular diagnosis ofcerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1gene. Neurol Sci. 2006 Jun;27(2):143-9. Review.
  5. Nie S, Chen G, Cao X, Zhang Y. Cerebrotendinous xanthomatosis: a comprehensivereview of pathogenesis, clinical manifestations, diagnosis, and management.Orphanet J Rare Dis. 2014 Nov 26;9:179. doi: 10.1186/s13023-014-0179-4. Review.
  6. Norlin M, von Bahr S, Bjorkhem I, Wikvall K. On the substrate specificity ofhuman CYP27A1: implications for bile acid and cholestanol formation. J Lipid Res.2003 Aug;44(8):1515-22.
  7. von Bahr S, Movin T, Papadogiannakis N, Pikuleva I, Rönnow P, Diczfalusy U,Björkhem I. Mechanism of accumulation of cholesterol and cholestanol in tendonsand the role of sterol 27-hydroxylase (CYP27A1). Arterioscler Thromb Vasc Biol.2002 Jul 1;22(7):1129-35.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Vivi Li
View Times: 674
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
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