About
Site Map
Contact Us
A service of the
U.S. National Library of Medicine®
Home
Conditions
Genes
Chromosomes
Handbook
Glossary
Resources
Genes
>
CYP27A1
>
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
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: February 6, 2009