Gene Locus : human-ACHE
Mode of mutation : Natural mutant
Disease :
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity : Hypersensitivity to acetylcholinesterase inhibitors
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment : a T-->A substitution, disrupting a putative glucocorticoid response element identified 17 kb upstream of the transcription start site. Allele frequency for this mutation was 0.006 in 333 individuals of various ethnic origins
| Title : A transcription-activating polymorphism in the ACHE promoter associated with acute sensitivity to anti-acetylcholinesterases - Shapira_2000_Hum.Mol.Genet_9_1273 |
| Author(s) : Shapira M , Tur-Kaspa I , Bosgraaf L , Livni N , Grant AD , Grisaru D , Korner M , Ebstein RP , Soreq H |
| Ref : Hum Mol Genet , 9 :1273 , 2000 |
| Abstract : Shapira_2000_Hum.Mol.Genet_9_1273 |
| ESTHER : Shapira_2000_Hum.Mol.Genet_9_1273 |
| PubMedSearch : Shapira_2000_Hum.Mol.Genet_9_1273 |
| PubMedID: 10814709 |
| Gene_locus related to this paper: human-ACHE |