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
| 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 : De Jaco_2012_Febs.J_279_4293 |
| ESTHER : De Jaco_2012_Febs.J_279_4293 |
| 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 : Park_2004_J.Biol.Chem_279_17085 |
| ESTHER : Park_2004_J.Biol.Chem_279_17085 |
| PubMedSearch : Park_2004_J.Biol.Chem_279_17085 |
| PubMedID: 14764582 |
| Gene_locus related to this paper: human-TG |