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
| 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 |