CP27 antibody, CTX antibody, CYP27 antibody, Cyp27 antibody, P450C27 antibody, 1300013A03Rik antibody, cytochrome P450 family 27 subfamily A member 1 antibody, cytochrome P450, family 27, subfamily a, polypeptide 1 antibody, cytochrome P450, family 27, subfamily A, polypeptide 1 antibody, sterol 26-hydroxylase, mitochondrial antibody, CYP27A1 antibody, Cyp27a1 antibody, cyp27a1 antibody
Background
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.