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. Epub 2015 Jul 26.

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Epoxide Hydrolases / genetics*
  • Epoxide Hydrolases / metabolism
  • Gene Expression Regulation, Enzymologic
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Liver Diseases, Alcoholic / genetics
  • Liver Diseases, Alcoholic / metabolism
  • Mutation*
  • Neoplasms / genetics
  • Neoplasms / metabolism
  • Polymorphism, Single Nucleotide*
  • Risk Factors
  • Substrate Specificity

Substances

  • Epoxide Hydrolases
  • EPHX1 protein, human