Anti-CYP27A1 Antibody Picoband® Fluoro488 Conjugated

CYP27A1 is a gene encoding a cytochrome P450 oxidase, and is commonly known as sterol 27-hydroxylase. It is mapped to 2q35. 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.

Beta-adrenergic receptors mediate the catecholamine-induced activation of adenylate cyclase through the action of G proteins. Beta-3 is involved in the regulation of lipolysis and thermogenesis.

1. Guyant-Marechal, L., Verrips, A., Girard, C., Wevers, R. A., Zijlstra, F., Sistermans, E., Vera, P., Campion, D., Hannequin, D. Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype. Am. J. Med. Genet. 139A: 114-117, 2005. 2. Lamon-Fava, S., Schaefer, E. J., Garuti, R., Salen, G., Calandra, S. Two novel mutations in the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosis. Clin. Genet. 61: 185-191, 2002.