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EPHX1

EPHX1

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

What is the official name of the EPHX1 gene?

The official name of this gene is “epoxide hydrolase 1, microsomal (xenobiotic).”

EPHX1 is the gene's official symbol. The EPHX1 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the EPHX1 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

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 UniProtThis link leads to a site outside Genetics Home Reference.:

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.

How are changes in the EPHX1 gene related to health conditions?

Genetics Home Reference provides information about preeclampsia, which is associated with changes in the EPHX1 gene.
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the EPHX1 gene's known or predicted involvement in human disease.

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.

Familial hypercholanemia (FHCA): A disorder characterized by elevated serum bile acid concentrations, itching, and fat malabsorption. The disease is caused by mutations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the EPHX1 gene.
  • Hypercholanemia, familial
  • Preeclampsia/eclampsia 1
OMIM.orgThis link leads to a site outside Genetics Home Reference., a catalog designed for genetics professionals and researchers, provides the following information about the EPHX1 gene and its association with health conditions.
OMIM
Number
Title

Where is the EPHX1 gene located?

Cytogenetic Location: 1q42.1

Molecular Location on chromosome 1: base pairs 225,810,094 to 225,845,562

The EPHX1 gene is located on the long (q) arm of chromosome 1 at position 42.1.

The EPHX1 gene is located on the long (q) arm of chromosome 1 at position 42.1.

More precisely, the EPHX1 gene is located from base pair 225,810,094 to base pair 225,845,562 on chromosome 1.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about EPHX1?

You and your healthcare professional may find the following resources about EPHX1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the EPHX1 gene or gene products?

  • EPHX
  • EPOX
  • HYL1
  • MEH

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding EPHX1?

bile ; deficiency ; degradation ; enzyme ; familial ; gene ; haplotype ; hydrolase ; hydrolysis ; hypertension ; malabsorption ; protein ; soluble ; transcript

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Published: December 22, 2014