EPHX1

Full Name: Epoxide Hydrolase 1

Genomic Location: Chromosome 1:225,810,074-225,845,563

Protein Size: 455 amino acids

Function:

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. May play a role in the metabolism of endogenous lipids such as epoxide-containing fatty acids.

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.

Linked SNP(s):

  • rs1051740 is linked to EPHX1, it is located in the coding region of the gene.
  • Population frequencies are approximately 68% for the reference allele (T) and 32% for the alternate allele (C).
  • Studies suggest the T allele is associated with a slightly increased risk of adenomas when diet is rich in meat and low in vegetables, fruits, and berries.
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