EPHX1

Gene Information
 
Gene Symbol
EPHX1
 
Aliases
EPHX, EPOX, HYL1, MEH
 
Entrez Gene ID
 
Gene Name
Epoxide hydrolase 1, microsomal (xenobiotic)
 
Chromosomal Location
1q42.1
 
HGNC ID
 
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.
 
GeneCards ID
 
UniGene
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0004301 Molecular function Epoxide hydrolase activity TAS 7516776
Protein Information
 
Protein Name
Epoxide hydrolase 1, microsomal (xenobiotic)
 
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
 
Refseq Proteins
 
UniProt
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF00561 Abhydrolase_1 alpha/beta hydrolase fold
PF06441 EHN Epoxide hydrolase N terminus
 
KEGG
 
OMIM
 
Phenotype MIM ID
 
Interactions
STRING MINT I2D
ENSP00000272167 P07099

Associated Diseases

Diseases References
Asthma 17711870, 17690329, 18439551
Cancer (carcinoma) 1423213, 18383527, 12029283
Cystic fibrosis 14593914, 17073633
Lung diseases 9388430, 9388429
Polyps 11489754, 16926176
   
References
 
Primary:

Two exonic single nucleotide polymorphisms in the microsomal epoxide hydrolase gene are associated with polycystic ovary syndrome.

Korhonen Seija, Romppanen Eeva Liisa, Hiltunen Mikko, Helisalmi Seppo, Punnonen Kari, Hippelainen Maritta, Heinonen Seppo
Department of Obstetrics and Gynecology, Kuopio University Hospital, Kuopio, Finland.
Fertil Steril. 2003 Jun;79(6):1353-7.

Unreviewed Literature:

PubMed / PMC ID
Title Type of study
24505354, PMC3914883
Quantitative methylation level of the EPHX1 promoter in peripheral blood DNA is associated with polycystic ovary syndrome. 
In vitro 

 

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