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Description
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. Epoxide hydrolase (EHs) are biotransformation enzymes that catalyze the hydrolysis of arene and aliphatic epoxides to less reactive and more water soluble dihydrodiols by the trans addition of water. The enzymatic hydration is essentially irreversible and produces mainly metabolites of lower reactivity that can be conjugated and excreted, and, therefore, are generally regarded as detoxifying. Soluble EH (sEH) is a ubiquitous mammalian enzyme for which liver and kidney are reported to have the highest activity. Microsomal EH (mEH) exhibits a broad substrate specificity, while sEH is an enzyme with a "complementary" substrate specificity to mEH. sEH is expressed in 3T3 and HeLa cells. sEH is encoded by the EPHX2 gene, which maps to chromosome 8p21.2.
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