Home > Gene Browser > EPHX1

EPHX1

Synonyms
EPHX, EPOX, HYL1, MEH
External resources
Summary
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
7,745
Likely benign
4,365
Benign
327

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on EPHX1 gene.

Phenotype class
Patients in 3billion (%)

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