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References

These sources were used to develop the Genetics Home Reference gene summary on the CYP27A1 gene.

Araya Z, Tang W, Wikvall K. Hormonal regulation of the human sterol 27-hydroxylase gene CYP27A1. Biochem J. 2003 Jun 1;372(Pt 2):529-34. PubMed citation
Entrez Gene
Gallus GN, Dotti MT, Federico A. Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene. Neurol Sci. 2006 Jun;27(2):143-9. Review. PubMed citation
Norlin M, von Bahr S, Bjorkhem I, Wikvall K. On the substrate specificity of human CYP27A1: implications for bile acid and cholestanol formation. J Lipid Res. 2003 Aug;44(8):1515-22. Epub 2003 Jun 1. PubMed citation
OMIM: CYTOCHROME P450, SUBFAMILY XXVIIA, POLYPEPTIDE 1
von Bahr S, Movin T, Papadogiannakis N, Pikuleva I, Rönnow P, Diczfalusy U, Björkhem I. Mechanism of accumulation of cholesterol and cholestanol in tendons and the role of sterol 27-hydroxylase (CYP27A1). Arterioscler Thromb Vasc Biol. 2002 Jul 1;22(7):1129-35. PubMed citation

Reviewed: March 2008

Published: May 20, 2013