g.-17113T>A_human-ACHE

General

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"

References (1)

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