Gene_Locus Report

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Gene_locus Report for: human-EPHX1

Name Class
human-EPHX1NameHomo sapiens (Human) microsomal epoxide hydrolase HYEP mEH, epoxide hydratase EPHX1
SpeciesHomo sapiens
Organismman
Gene_nameEPHX1
mEH
HmEH
BlockX
FamilyEpoxide_hydrolase
DiseaseLipoatrophic diabetes
Familial hypercholanemia
Allelic_variant4kbup_human-EPHX1
IVS1_human-EPHX1
Xenobiotic_sensitivityDefect in hydroxylation of diphenylhydantoin
Database (12)
Paper (20)
CommentEpoxide hydrolases (EC 3.3.2.3) play an important role in both the activation and detoxification of exogenous chemicals such as polycyclic aromatic hydrocarbons. Mutant form of microsomal epoxide hydrolase is the molecular basis for abnormal reactions to phenytoin (diphenylhydantoin, dilantin) and some other drugs. Hydantoin used during pregnancy for seizure prophylaxis can result in children with the fetal hydantoin syndrome (FHS)(major birth defects including congenital heart disease, cleft lip/palate, microcephaly, and major genitourinary, eye, and limb defects) Defect in hydroxylation of diphenylhydantoin is related to a mutation in human-EPHX1 resulting in low activity. Familial hypercholanemia is characterized by elevated serum bile acid concentrations, itching, and fat malabsorption. In a patient with hypercholanemia. Zhu et al. (2003) identified compound heterozygosity for 2 mutations in the EPHX1 gene, which resulted in a significant decrease in EPHX1 promoter activity
Sequencehuman-EPHX1
Proteinhuman-EPHX1
Peptidehuman-EPHX1
Mutation (6)
Inhibitor (6)
Substrate (6)
Tree_nodeEpoxide-hydrolase_like190019
Epoxide_hydrolase193517
OldTremblB2R8N0

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Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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