title: Microsomal epoxide hydrolase 1 (EPHX1): Gene, structure, function, and role in human disease.
abstract: Microsomal epoxide hydrolase (EPHX1) is an evolutionarily highly conserved biotransformation enzyme for converting epoxides to diols. Notably, the enzyme is able to either detoxify or bioactivate a wide range of substrates. Mutations and polymorphic variants in the EPHX1 gene have been associated with susceptibility to several human diseases including cancer. This review summarizes the key knowledge concerning EPHX1 gene and protein structure, expression pattern and regulation, and substrate specificity. The relevance of EPHX1 for human pathology is especially discussed.
authors.affiliation: Toxicogenomics Unit, National Institute of Public Health, Prague, Czech Republic.
authors.forename: Radka
authors.initials: R
authors.lastname: Václavíková
authors.affiliation: Centre for Systems Medicine, Department of Physiology, Royal College of Surgeons in Ireland, Dublin 2, Ireland.
authors.forename: David J
authors.initials: DJ
authors.lastname: Hughes
authors.affiliation: Toxicogenomics Unit, National Institute of Public Health, Prague, Czech Republic; Biomedical Centre, Faculty of Medicine in Plzen, Charles University in Prague, Plzen, Czech Republic. Electronic address: pavel.soucek@szu.cz.
authors.forename: Pavel
authors.initials: P
authors.lastname: Souček
mesh_terms: D004851:Epoxide Hydrolases / Q000235:genetics* / Q000378:metabolism; D015971:Gene Expression Regulation, Enzymologic; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008108:Liver Diseases, Alcoholic / Q000235:genetics / Q000378:metabolism; D009154:Mutation; D009369:Neoplasms / Q000235:genetics / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D013379:Substrate Specificity
chemical_list: D004851:Epoxide Hydrolases; C522330:EPHX1 protein, human
keywords: Disease; EPHX1; Function; Gene; Genotype; Structure