Cytochrome P450 family 39 subfamily A member 1 (CYP39A1)

Cytochrome P450 family 39 subfamily A member 1 (CYP39A1) is an enzyme in the cytochrome P450 superfamily, functioning primarily as an oxysterol 7-alpha-hydroxylase involved in the metabolism of cholesterol-derived sterols, especially 24-hydroxycholesterol, 25-hydroxycholesterol, and 27-hydroxycholesterol. Expressed mainly in the liver but also in nonpigmented ocular and brain cells, CYP39A1 catalyzes the 7-alpha-hydroxylation of 24-hydroxycholesterol, facilitating its conversion to bile acids and contributing to overall cholesterol homeostasis. Decreased expression is linked with tumor development, notably hepatocellular carcinoma, and is considered a prognostic biomarker and potential tumor suppressor gene. Genetic polymorphisms in CYP39A1 may influence susceptibility to chemotherapy-induced toxicity and ocular diseases. There are currently no approved drugs that directly target CYP39A1, but it may affect drug pharmacokinetics and toxicity profiles.

Other names

24-hydroxycholesterol 7-alpha-hydroxylaseOxysterol 7-alpha-hydroxylaseCytochrome P450 39A1hCYP39A124-hydroxycholesterol 7-alpha-hydroxylase 224S-hydroxycholesterol 7-alpha-hydroxylaseCytochrome P450, family 39, subfamily A, polypeptide 1

Hydroxylation of 24-hydroxycholesterol and other oxysterols, contributing to bile acid synthesis; suggested pharmacogenomics link to chemotherapy toxicity (e.g., paclitaxel).