This gene encodes a member of the epoxide hydrolase family. The protein, found in both the cytosol and peroxisomes, binds to specific epoxides and converts them to the corresponding dihydrodiols. Mutations in this gene have been associated with familial hypercholesterolemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]
Forensic Context
A study in humans demonstrated that major blunt trauma triggers a selective alteration in gene expression within circulating leukocytes, with the EPHX2 being among the top ten down-regulated genes following injury [Brandfellner et al. DOI:10.1097/SHK.0b013e31829de02f]. A study in mice demonstrated that the EPHX2 was down-regulated in liver tissue following Kupffer cell-specific and endothelial cell-specific exposures to α-particles, and this down-regulation was also observed after γ-ray exposure, identifying it as a gene with characteristic expression changes in response to radiation compared to hepatotoxicants [Roudkenar et al. DOI:10.1269/jrr.07078].