This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which 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, this protein is important for overall cholesterol homeostasis. Mutations in this gene cause cerebrotendinous xanthomatosis, a rare autosomal recessive lipid storage disease.
CYP27A1; cytochrome P450, family 27, subfamily A, polypeptide 1; CYP27, cytochrome P450, subfamily XXVIIA (steroid 27 hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1; sterol 26-hydroxylase, mitochondrial; cerebrotendinous xanthomatosis; CP27; CTX; Sterol 26 hydroxylase; Sterol 27 hydroxylase; Vitamin D(3) 25hydroxylase; CYP; CYP27; Cytochrome P450 27 mitochondrial; cytochrome P450 27; sterol 27-hydroxylase; cytochrome P-450C27/25; vitamin D(3) 25-hydroxylase; cholestanetriol 26-monooxygenase; 5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol 27-hydroxylase; 5-beta-cholestane-3-alpha, 7-alpha, 12-alpha-triol 26-hydroxylase; 5-beta-cholestane-3-alpha, 7-alpha, 12-alpha-triol 27-hydroxylase; cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1