CYP2E1 Chromosome 10

Cytochrome P450 family 2 subfamily E member 1
1 variant 1 Health Risk

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What This Gene Does
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is induced by ethanol, the diabetic state, and starvation. The enzyme metabolizes both endogenous substrates, such as ethanol, acetone, and acetal, as well as exogenous substrates including benzene, carbon tetrachloride, ethylene glycol, and nitrosamines which are premutagens found in cigarette smoke. Due to its many substrates, this enzyme may be involved in such varied processes as gluconeogenesis, hepatic cirrhosis, diabetes, and cancer. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Cytochrome P450 family 2
Locus Type
gene with protein product
Location
10q26.3
Ensembl
ENSG00000130649
Associated Conditions (1)
CYP2E1*6 ALLELE
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS6413432 Health Risk association CYP2E1*6 ALLELE, CYP2E1*6 ALLELE
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