EPHX1 gene

epoxide hydrolase 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

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.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Preeclampsia/eclampsia 1
  • Hypercholanemia, familial

From UniProt:

Familial hypercholanemia (FHCA): A disorder characterized by elevated serum bile acid concentrations, itching, and fat malabsorption. [MIM:607748]

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.

Cytogenetic Location: 1q42.1, which is the long (q) arm of chromosome 1 at position 42.1

Molecular Location: base pairs 225,810,074 to 225,845,563 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1q42.1, which is the long (q) arm of chromosome 1 at position 42.1
  • EPHX
  • EPOX
  • HYL1
  • MEH