Epoxide Hydrolase 1 Microsomal (EPHX1) Human Recombinant Protein

Epoxide hydrolase is a critical biotransformation enzyme that converts epoxides from the degradation of aromatic compounds to trans-dihydrodiols which can be conjugated and excreted from the body. Epoxide hydrolase functions in both the activation and detoxification of epoxides. Mutations in this gene cause preeclampsia, epoxide hydrolase deficiency or increased epoxide hydrolase activity. Alternatively spliced transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Dec 2008]

Ephx1: Biotransformation enzyme that catalyzes the hydrolysis of arene and aliphatic epoxides to less reactive and more water soluble dihydrodiols by the trans addition of water. In some populations, the high activity haplotype tyr113/his139 is overrepresented among women suffering from pregnancy-induced hypertension (pre-eclampsia) when compared with healthy controls. Defects in EPHX1 are a cause of familial hypercholanemia (FHCA). FHCA is a disorder characterized by elevated serum bile acid concentrations, itching, and fat malabsorption. Belongs to the peptidase S33 family.

Protein type: Hydrolase; Xenobiotic Metabolism - metabolism by cytochrome P450; Membrane protein, integral; EC 3.3.2.9

Chromosomal Location of Human Ortholog: 1q42.1

Cellular Component: endoplasmic reticulum membrane; integral to membrane

Molecular Function: cis-stilbene-oxide hydrolase activity; epoxide hydrolase activity

Biological Process: response to toxin; response to organic cyclic substance; aromatic compound catabolic process

Disease: Hypercholanemia, Familial; Preeclampsia/eclampsia 1