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EPHX1
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Gene Symbol |
EPHX1 |
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Aliases |
EPHX, EPOX, HYL1, MEH |
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Entrez Gene ID |
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Gene Name |
Epoxide hydrolase 1 |
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Chromosomal Location |
1q42.12 |
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HGNC ID |
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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.[provided by RefSeq, Dec 2008]
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RefSeq DNA |
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RefSeq mRNA |
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e!Ensembl
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| Protein Information |
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Protein Name |
Epoxide hydrolase 1, epoxide hydratase, epoxide hydrolase 1 microsomal, epoxide hydrolase 1, microsomal (xenobiotic) |
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Function |
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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 (By similarity). May play a role in the metabolism of endogenous lipids such as epoxide-containing fatty acids |
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UniProt |
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Interactions |
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| STRING |
MINT |
IntAct |
| ENSP00000354859 |
P14416 |
P14416 |
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View interactions
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Associated Diseases
| Disease group | Disease Name | References |
| Digestive System Diseases |
| Liver Diseases |
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| Hepatitis |
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| Endocrine System Diseases |
| PCOS |
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| Neoplasms |
| Lymphoma |
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| Skin Cancer |
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| Multiple Myeloma |
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| Leukemia |
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| Colorectal Cancer |
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| Prostate cancer |
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| Reticulosarcoma |
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| Liver Cancer |
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| Carcinoma |
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| Lung Cancer |
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| Anaplastic Carcinoma |
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| Reproductive disorders |
| Preeclampsia |
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| Respiratory Tract Diseases |
| Emphysema |
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| Airway Obstruction |
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| Pulmonary Emphysema |
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| Chronic Obstructive Pulmonary Disease |
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References |
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| 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. |
Abstract
OBJECTIVE: To determine whether genetic variability in the gene encoding microsomal epoxide hydrolase (EPHX) contributes to individual differences in susceptibility to the development of polycystic ovary syndrome (PCOS). DESIGN: Retrospective case-control study. SETTING: University-based clinic. PATIENT(S): One hundred twelve white women with PCOS and 115 healthy controls. INTERVENTION(S): None. MAIN OUTCOME MEASURES: The presence of two single nucleotide polymorphisms (SNPs), T-->C (Tyr113His) in exon 3 and A-->G (His139Arg) in exon 4, in the EPHX gene. Single point analysis was expanded to pair of loci haplotype analysis to examine the estimated haplotype frequencies of the two SNPs, of unknown phase, in the PCOS and control groups. Estimated haplotype frequencies were assessed using the maximum-likelihood method, using an expectation-maximization algorithm. RESULT(S): Single point allele and genotype distributions in exon 3 and exon 4 of the EPHX gene were not statistically different between the groups. However, according to the haplotype estimation analysis, we observed a significantly elevated frequency of haplotype C-G (His113-Arg139) in the PCOS group versus the control group. The odds ratio for PCOS associated with the low activity haplotype C-G (His113-Arg139) was 2.28 (95% confidence interval 1.1-4.8). CONCLUSION(S): The use of two intragenic single nucleotide polymorphisms jointly in haplotype analysis of association demonstrated that the genetically determined low activity haplotype C-G (His113-Arg139) was significantly associated with PCOS. |
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| © 2019, Biomedical Informatics Centre, NIRRH |
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