Epoxide Hysrolase 1, Microsomal

Alternative Names

  • EPHX1
  • Epoxide Hydrolase
  • EPHX
  • Epoxide Hydrolase, Microsomal Xenobiotic
  • EPOX
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OMIM Number

132810

NCBI Gene ID

2052

Uniprot ID

P07099

Length

35,472 bases

No. of Exons

11

No. of isoforms

1

Protein Name

Epoxide hydrolase 1

Molecular Mass

52949 Da

Amino Acid Count

455

Genomic Location

chr1:225,810,092-225,845,563

Gene Map Locus
1q42.12

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000120.4:c.1040G>CLebanonchr1:225842474Uncertain SignificanceBreast CancerNG_009776.1:g.37379G>C; NM_000120.4:c.1040G>C; NP_000111.1:p.Arg347Thr777692998
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