D260EfsX39_human-CES1

General

Gene Locus : human-CES1

Mode of mutation : Natural mutant

Disease :

Summary : Expression No activity or expression Zhu_2008_Am.J.Hum.Genet_82_1241 || Expression activation of the antiviral prodrug oseltamivir is impaired Zhu_2009_Drug.Metab.Dispos_37_264

AAA Change :

Allelic Variant :

Risk Factor :

Inhibitor :

Structure :

Disease by interaction :

Interact Gene Locus :

Xenobiotic sensitivity :

Modification : Expression

Torpedo_number : 241

Kinetic Parameter : No kinetic parameter

News : No news

Comment :
P.D260EfsX39 Asp260GlufsX39 c.888delT rs778068631 activation of the antiviral prodrug oseltamivir is impaired

References (3)

Title : Carboxylesterase 1 as a determinant of clopidogrel metabolism and activation - Zhu_2013_J.Pharmacol.Exp.Ther_344_665
Author(s) : Zhu HJ , Wang X , Gawronski BE , Brinda BJ , Angiolillo DJ , Markowitz JS
Ref : Journal of Pharmacology & Experimental Therapeutics , 344 :665 , 2013
Abstract :
PubMedSearch : Zhu_2013_J.Pharmacol.Exp.Ther_344_665
PubMedID: 23275066
Gene_locus related to this paper: human-CES1

Title : Activation of the antiviral prodrug oseltamivir is impaired by two newly identified carboxylesterase 1 variants - Zhu_2009_Drug.Metab.Dispos_37_264
Author(s) : Zhu HJ , Markowitz JS
Ref : Drug Metabolism & Disposition: The Biological Fate of Chemicals , 37 :264 , 2009
Abstract :
PubMedSearch : Zhu_2009_Drug.Metab.Dispos_37_264
PubMedID: 19022936
Gene_locus related to this paper: human-CES1

Title : Two CES1 gene mutations lead to dysfunctional carboxylesterase 1 activity in man: clinical significance and molecular basis - Zhu_2008_Am.J.Hum.Genet_82_1241
Author(s) : Zhu HJ , Patrick KS , Yuan HJ , Wang JS , Donovan JL , DeVane CL , Malcolm R , Johnson JA , Youngblood GL , Sweet DH , Langaee TY , Markowitz JS
Ref : American Journal of Human Genetics , 82 :1241 , 2008
Abstract :
PubMedSearch : Zhu_2008_Am.J.Hum.Genet_82_1241
PubMedID: 18485328
Gene_locus related to this paper: human-CES1