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Sterol 27-hydroxylase (CYP27A1) is a mitochondrial cytochrome P450 enzyme that catalyzes the hydroxylation of cholesterol at the C-27 position, a key step in bile acid biosynthesis. Mutations in CYP27A1 cause cerebrotendinous xanthomatosis (CTX), a lipid storage disorder with severe neurological consequences. The enzyme plays a vital role in cholesterol homeostasis, reverse cholesterol transport, and regulation of cholesterol synthesis. Its expression is highest in the liver but also significant in peripheral tissues, macrophages, and glial cells.
Chenodeoxycholic acid treatment restores feedback inhibition on alternative metabolic pathways responsible for harmful metabolite buildup.
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