ELAVL2 Antibody / ELAV-like protein 2

ELAV-like protein 2 is a protein that in humans is encoded by the ELAVL2 gene. This gene encodes a member of the cytochrome P450 superfamily of enzymes, and is commonly known as sterol 27-hydroxylase. 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.