Gene Locus : mouse-ACHE
Mode of mutation : site directed mutagenesis
Disease :
Summary : Intracellular retention Intracellular retention similar to R451C_human-NLGN3 De Jaco_2005_Chem.Biol.Interact_157-158_371 || Intracellular retention Intracellular retention similar to R451C_human-NLGN3 De Jaco_2006_J.Biol.Chem_281_9667
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification : Intracellular retention
Torpedo_number : 388
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
p.Arg395Cys
| Title : A mutation linked with autism reveals a common mechanism of endoplasmic reticulum retention for the alpha,beta-hydrolase fold protein family - De Jaco_2006_J.Biol.Chem_281_9667 |
| Author(s) : De Jaco A , Comoletti D , Kovarik Z , Gaietta G , Radic Z , Lockridge O , Ellisman MH , Taylor P |
| Ref : Journal of Biological Chemistry , 281 :9667 , 2006 |
| Abstract : |
| PubMedSearch : De Jaco_2006_J.Biol.Chem_281_9667 |
| PubMedID: 16434405 |
| Title : A single mutation near the C-terminus in alpha\/beta hydrolase fold protein family causes a defect in protein processing - De Jaco_2005_Chem.Biol.Interact_157-158_371 |
| Author(s) : De Jaco A , Kovarik Z , Comoletti D , Jennings LL , Gaietta G , Ellisman MH , Taylor P |
| Ref : Chemico-Biological Interactions , 157-158 :371 , 2005 |
| Abstract : |
| PubMedSearch : De Jaco_2005_Chem.Biol.Interact_157-158_371 |
| PubMedID: 16429495 |