Gene Locus : human-EPHX1
Mode of mutation : Natural mutant
Disease : Lipoatrophic diabetes
Summary : Natural mutation Lipoatrophic diabetes Gautheron_2021_Elife_10_
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment : c.997A>C, p.(Thr333Pro) heterozygous variant in exon 7 of EPHX1
| Title : EPHX1 mutations cause a lipoatrophic diabetes syndrome due to impaired epoxide hydrolysis and increased cellular senescence - Gautheron_2021_Elife_10_ |
| Author(s) : Gautheron J , Morisseau C , Chung WK , Zammouri J , Auclair M , Baujat G , Capel E , Moulin C , Wang Y , Yang J , Hammock BD , Cerame B , Phan F , Feve B , Vigouroux C , Andreelli F , Jeru I |
| Ref : Elife , 10 : , 2021 |
| Abstract : Gautheron_2021_Elife_10_ |
| ESTHER : Gautheron_2021_Elife_10_ |
| PubMedSearch : Gautheron_2021_Elife_10_ |
| PubMedID: 34342583 |
| Gene_locus related to this paper: human-EPHX1 |