CYP27A1

CYP27A1 is a is_associated_with::gene encoding a is_associated_with::cytochrome P450 oxidase, and is commonly known as sterol 27-hydroxylase. This enzyme is located in many different tissues where it is found within the is_associated_with::mitochondria. It is most prominently involved in the biosynthesis of is_associated_with::bile acids.

Function
CYP27A1 participates in the degradation of is_associated_with::cholesterol to is_associated_with::bile acids in both the classic and acidic pathways. It is the initiating enzyme in the acidic pathway to bile acids, yielding is_associated_with::oxysterols by introducing a is_associated_with::hydroxyl group to the carbon at the 27 position in is_associated_with::cholesterol. In the acidic pathway, it produces 27-hydroxycholesterol from cholesterol whereas in the classic or neutral pathway, it produces 3β-hydroxy-5-cholestenoic acid.

It is also involved in the metabolism of vitamin D3.

While CYP27A1 is present in many different tissues, its function in these tissues is largely uncharacterized. In is_associated_with::macrophages, 27-hydroxycholesterol generated by this enzyme may be helpful against the production of inflammatory factors associated with is_associated_with::cardiovascular disease.

Clinical significance
Mutations in CYP27A1 are associated with is_associated_with::cerebrotendineous xanthomatosis, a rare is_associated_with::lipid storage disease.