EPHX1


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EPHX1

A gene on chromosome 1q42.1 that encodes epoxide hydrolase-1. Epoxide hydrolases are critical biotransformation enzymes that activate and detoxify epoxides by breaking down aromatic compounds to dihydrodiols, which can be conjugated and excreted from the body.
 
Molecular pathology
EPHX1 mutations variously cause pre-eclampsia, epoxide hydrolase deficiency or increase epoxide hydrolase activity.
References in periodicals archive ?
Position Chr (build 37) CpG Mapped gene Gene group 11 34460856 cg03728580 [CAT.sup.FDR] Body 11 34461028 cg17034036 [CAT.sup.FDR] Body 2 1482597 cg01385533 [TPO.sup.FDR] Body 1 226023590 cg05935800 EPHX1 Body 20 33539306 cg13607138 GSS Body 8 107642385 cg17526936 OXR1 Body 2 1544120 cg19407717 TPO Body 2 1479523 cg13703866 TPO Body 11 34460336 cg07768201 CAT TSS200 1 226012507 cg03337430 EPHX1 TSS1500;5'UTR Chr Coef SE p-Value Direction 11 0.003 0.001 0.00001 + + + + 11 0.002 0.001 0.0001 + + + + 2 -0.003 0.001 0.0004 -?-- 1 -0.002 0.001 0.002 20 -0.003 0.001 0.003 --?- 8 -0.002 0.001 0.004 --?- 2 -0.002 0.001 0.004 2 -0.001 0.000 0.005 11 0.003 0.001 0.006 + + + + 1 0.001 0.000 0.006 +--+ + Shown are the top 10 CpGs ordered by p-value.
Based on our microarray analysis, 14 genes, including three antimicrobial peptides (LEAP2, LOC396871, and MS4A2), two proteins involved in the regulation of proliferation and apoptosis of epithelial cells (PIAP and AREG), and genes associated with a number of physiological and metabolic processes (ATRN, CD59, CLU, DPEP1, EPHX1, RETN and UBP) were selected.
The genes were chosen to represent different biological pathways relevant for breast cancer biology, including hormone receptor status (ESR1, PGR), HER2 (human epidermal growth factor receptor 2) status for targeted antibody therapy (ERBB2), tamoxifen metabolism/detoxification (EPHX1), WNT signaling pathway (MMP7), angiogenesis (VEGFA), and proliferation (BIRC5, TOP2A).
Epoxide hydrolase 1 (EPHX1) is an enzyme catalyzing the detoxification of EPX to carbamazepine-10,11-trans-diol that is urinary excreted [79, 80].
We did not find any significant association near genes that are traditionally associated with benzene metabolism--such as Cyp2e1, Ephx1, Sult1a1, Mpo, and Nqo1--in the 100-ppm exposure group.
Finally, large-scale genome-wide association studies (GWAS) have demonstrated that genetic susceptibility to allergic asthma is also determined by complex interactions between genes involved in OS, such as glutamate cysteine ligase (GCLM), glutathione peroxidase (GPX1), catalase (CAT), myeloperoxidase (MPO), NADPH oxidase (CYBA, p22phox subunit), NAD(P)H, quinone oxidoreductase type 1 (NQO1), and microsomal epoxide hydrolase (EPHX1) [26] (Table 1).
In addition, SNPs present in metabolism and DNA repair genes were selected a priori by the consortium as candidate genes based on the available knowledge on functionalities with respect to bioactivation (CYP1A1, CYP2E1, CYP2D6, EPHX1, and EPHX2) and detoxification (GSTM1) of DNA adduct-forming metabolites, base excision repair of oxidative adducts (OGG1), nucleotide excision repair of bulky adducts (XRCC1, ERCC2/XPD, XPA, and XRCC3), repair of alkylated adducts (MGMT, ALKB, and MPG) and of thymine adducts (TDG), and with respect to folate metabolism, which is known to interfere with micronucleus formation (MTHFR, MTR, and MTRR).
These data are in accordance with a transcriptome analysis of HCV replicating cells which revealed a significant reduction of the expression of a variety of Nrf2-dependent genes such as NQO1, epoxide hydrolase 1 (ephx1), catalase (cat), and glutamate-cysteine ligase catalytic subunit (GCLC) and other enzymes of the glutathione metabolism [88].
The CGA approach may be limited because of probe selection in the Affymetrix Styl array.Among 498 SNPs associated with candidate genes, only 9 were located within exons {CYPJA2, ARNT2 (aryl-hydrocarbon receptor nuclear translocator 2), EPHX1 [epoxide hydrolase 1, microsomal (xenobiotic)], EPHX2, CYP26B1, GSTM3 (glutathione S-transferase mu 3 (brain)], and CYP4B11 and 87 were located within introns.
A recently published study also showed that children with GSTP1Val/Val genotype and a high activity for EPHX1 (microsomal epoxide hydrolase, also part of the antioxidative system) were at the highest asthma risk, especially if they lived < 75 m from a major road (Salam et al.
METHODS: We studied the effects of tobacco smoke in volunteers and investigated gene expression of 19 CYPs and 3 flavin-containing monooxygenases, as well as isoforms of gluthathione S-transferases (GST) and uridine diphosphate glucuronosyltransferases (UGT) and the microsomal epoxide hydrolase (EPHX1) in bronchoalveolar lavage cells and bronchial biopsies derived from smokers (n = 8) and nonsmokers (n = 10).
Gene UniGene ID NIEHS ID (a) symbol (b) Gene name (b) Rn.3603 AA900551 Ephx1 Epoxide hydrolase 1 Rn.8707 AA955199 Gdf10 Prepro bane inducing protein AA899443 EST, similar to mitochon- drial cytochrome B Rn.19270 Al059765 Anxa4 ZAP 36/annexin IV Rn.10958 Al059692 Eef2k Eukaryotic elongation factor 2 kinase UniGene ID NIEHS (c) Affymetrix (d) Call (e) Incyte (d) Rn.3603 0.687 0.506 NC 0.479 Rn.8707 0.642 -0.198 NC Absent -0.667 -0.291 NC Absent Rn.19270 -0.713 0.622 I Absent Rn.10958 -0.761 -0.002 NC 0.163 UniGene ID PHASE-1 (d) Rn.3603 Absent (f) Rn.8707 Absent Absent Rn.19270 Absent Rn.10958 Absent Abbreviations: D, decrease; I, increase; NC, no change.