R46H_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 : 44

Kinetic Parameter : No kinetic parameter

News : No news

Comment :
p.R46H Arg46His homologous mutation in mouse ACHE corresponding to the natural mutation found congenital hypothyroidism with goitre p.R2242H Arg2242His c.6725G>A (p.R2223H Arg2223His in mature protein without 19-amino-acid signal peptide) Caron_2003_J.Clin.Endocrinol.Metab_88_3546

References (2)

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

Title : The acetylcholinesterase homology region is essential for normal conformational maturation and secretion of thyroglobulin - Park_2004_J.Biol.Chem_279_17085
Author(s) : Park YN , Arvan P
Ref : Journal of Biological Chemistry , 279 :17085 , 2004
Abstract :
PubMedSearch : Park_2004_J.Biol.Chem_279_17085
PubMedID: 14764582
Gene_locus related to this paper: human-TG