G135R_mouse-ACHE

General

Gene Locus : mouse-ACHE

Mode of mutation : Site directed mutagenesis

Disease :

Summary : Intracellular retention Site directed mutagenesis De Jaco_2012_Febs.J_279_4293

AAA Change :

Allelic Variant :

Risk Factor :

Inhibitor :

Structure :

Disease by interaction :

Interact Gene Locus :

Xenobiotic sensitivity :

Modification : Intracellular retention

Torpedo_number : 132

Kinetic Parameter : No kinetic parameter

News : No news

Comment :
p.G135R Gly135Arg homologous mutation in mouse ACHE corresponding to the natural mutation which causes non-goitrous congenital primary hypothyroidism in the WIC-rdw rat Kim_2000_Mol.Endocrinol_14_1944

References (1)

Title : Congenital hypothyroidism mutations affect common folding and trafficking in the alpha\/beta-hydrolase fold proteins - De Jaco_2012_Febs.J_279_4293
Author(s) : De Jaco A , Dubi N , Camp S , Taylor P
Ref : Febs J , 279 :4293 , 2012
Abstract :
PubMedSearch : De Jaco_2012_Febs.J_279_4293
PubMedID: 23035660
Gene_locus related to this paper: human-TG