CYP27A1 is a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases that catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial protein oxidizes cholesterol intermediates as part of the bile synthesis pathway. Since the conversion of cholesterol to bile acids is the major route for removing cholesterol from the body, CYP27A1 is important for overall cholesterol homeostasis. Mutations in CYP27A1 cause cerebrotendinous xanthomatosis, a rare autosomal recessive lipid storage disease (1).
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