CYP27A1

CYP27A1 is a gene that encodes a protein belonging to the cytochrome P450 superfamily. This enzyme is primarily involved in the catabolism of cholesterol and the synthesis of bile acids. Specifically, it catalyzes the first and rate-limiting step in the acidic pathway of bile acid synthesis, which is the conversion of cholesterol to 27-hydroxycholesterol. This hydroxylation step occurs in the mitochondria.

Mutations in the CYP27A1 gene are responsible for a rare genetic disorder called cerebrotendinous xanthomatosis (CTX). CTX is an autosomal recessive disease characterized by the accumulation of cholesterol and its metabolites, particularly cholestanol and bile alcohols, in various tissues. This accumulation leads to a range of clinical manifestations, including progressive neurological dysfunction, juvenile cataracts, and xanthomas (fatty deposits) in tendons and skin.

The enzyme's role extends beyond bile acid synthesis; it is also implicated in vitamin D metabolism and the metabolism of other steroids. Its broad substrate specificity and location in multiple tissues, including the liver, brain, and adrenal glands, highlight its diverse physiological functions. Research into CYP27A1 continues to unravel its complex roles in lipid metabolism and its implications for various disease states.