Microsomal epoxide hydrolase 1 (EPHX1): Gene, structure, function, and role in human disease

  • Gene. 2015 Oct 15;571(1):1-8. doi: 10.1016/j.gene.2015.07.071.
Radka Václavíková  1 ,  David J Hughes  2 ,  Pavel Souček  3
Affiliations
  • 1. Toxicogenomics Unit, National Institute of Public Health, Prague, Czech Republic.
  • 2. Centre for Systems Medicine, Department of Physiology, Royal College of Surgeons in Ireland, Dublin 2, Ireland.
  • 3. 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: [email protected].
PMID: 26216302 DOI: 10.1016/j.gene.2015.07.071
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.

Keywords
Disease; EPHX1; Function; Gene; Genotype; Structure.