CYP2E1

Description

The CYP2E1 (cytochrome P450 family 2 subfamily E member 1) is a protein-coding gene located on chromosome 10.

CYP2E1 is an enzyme that belongs to the cytochrome P450 mixed-function oxidase system, responsible for metabolizing foreign compounds in the body. While CYP2E1 handles a relatively small number of reactions, it plays a critical role in breaking down toxic environmental chemicals and carcinogens along with enzymes like CYP1A2 and CYP3A4. CYP2E1 is found in the endoplasmic reticulum and its activity is increased by ethanol, diabetes, and starvation. It metabolizes both endogenous substrates (e.g., ethanol, acetone) and exogenous substrates (e.g., benzene, carbon tetrachloride, nitrosamines). Due to its diverse substrates, CYP2E1 may be involved in various processes like gluconeogenesis, liver cirrhosis, diabetes, and cancer. CYP2E1 is primarily expressed in the liver, where it accounts for nearly 50% of total hepatic cytochrome P450 mRNA and 7% of the hepatic cytochrome P450 protein. This means the liver is the main site for CYP2E1-mediated drug deactivation, either directly or through facilitated excretion. CYP2E1 mainly metabolizes small, polar molecules, including toxic chemicals like dimethylformamide, aniline, and halogenated hydrocarbons. While these oxidations are beneficial, CYP2E1 can also activate certain carcinogens and toxins, potentially contributing to drug-induced liver toxicity.

CYP2E1 is a cytochrome P450 monooxygenase that plays a role in the metabolism of fatty acids. It uses molecular oxygen to insert one oxygen atom into a substrate, reducing the second oxygen atom into water. Two electrons are provided by NADPH via cytochrome P450 reductase. CYP2E1 catalyzes the hydroxylation of carbon-hydrogen bonds, specifically at the omega-1 position of fatty acids. It shows the highest catalytic activity for saturated fatty acids. CYP2E1 may also be involved in the oxidative metabolism of xenobiotics.

CYP2E1 is also known as CPE1, CYP2E, P450-J, P450C2E.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing