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