CYP39A1
CYP39A1 is a gene that encodes a member of the cytochrome P450 superfamily of enzymes. These enzymes are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids, and other lipids. The CYP39A1 enzyme specifically is involved in the metabolism of oxysterols, which are oxygenated derivatives of cholesterol.
Function[edit | edit source]
The primary function of the CYP39A1 enzyme is to convert 24-hydroxycholesterol into 7α,24-dihydroxycholesterol. This reaction is part of the bile acid biosynthesis pathway, which is crucial for the digestion and absorption of dietary fats and fat-soluble vitamins. The enzyme is predominantly expressed in the liver, where it plays a significant role in maintaining cholesterol homeostasis.
Structure[edit | edit source]
CYP39A1 belongs to the cytochrome P450 family 39, subfamily A, polypeptide 1. The structure of CYP39A1, like other cytochrome P450 enzymes, includes a heme prosthetic group that is essential for its monooxygenase activity. The enzyme's active site binds to its substrate, 24-hydroxycholesterol, facilitating its conversion to 7α,24-dihydroxycholesterol.
Clinical Significance[edit | edit source]
Mutations or alterations in the expression of the CYP39A1 gene can have significant implications for cholesterol metabolism and may contribute to various metabolic disorders. Research is ongoing to understand the full impact of CYP39A1 on human health and its potential role in diseases such as atherosclerosis and liver disease.
Related Enzymes[edit | edit source]
CYP39A1 is part of a larger family of cytochrome P450 enzymes, which includes CYP3A4, CYP2D6, and CYP2C9. These enzymes are involved in the metabolism of a wide range of endogenous and exogenous compounds.
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References[edit | edit source]
External Links[edit | edit source]
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Contributors: Prab R. Tumpati, MD