Cytochrome P450, Family 27, Subfamily A, Polypeptide 1 (CYP27A1) Antibody – Rabbit Polyclonal

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. [provided by RefSeq, Jul 2008]

CYP27A1: Catalyzes the first step in the oxidation of the side chain of sterol intermediates; the 27-hydroxylation of 5-beta- cholestane-3-alpha,7-alpha,12-alpha-triol. Has also a vitamin D3- 25-hydroxylase activity. Defects in CYP27A1 are the cause of cerebrotendinous xanthomatosis (CTX). CTX is a rare sterol storage disorder characterized clinically by progressive neurologic dysfunction, premature atherosclerosis, and cataracts. Belongs to the cytochrome P450 family.

Protein type: Oxidoreductase; EC 1.14.13.15; Lipid Metabolism - primary bile acid biosynthesis; Mitochondrial

Chromosomal Location of Human Ortholog: 2q35

Cellular Component: mitochondrial matrix; mitochondrial inner membrane

Molecular Function: cholestanetriol 26-monooxygenase activity; cholesterol 26-hydroxylase activity; iron ion binding; heme binding; steroid hydroxylase activity; vitamin D3 25-hydroxylase activity

Biological Process: cholesterol metabolic process; bile acid biosynthetic process; bile acid metabolic process; xenobiotic metabolic process; sterol metabolic process

Disease: Cerebrotendinous Xanthomatosis