Gene Locus : ratno-3neur
Mode of mutation : site directed mutagenesis
Disease :
Summary : Intracellular retention Defect in protein processing De Jaco_2010_J.Biol.Chem_285_28674
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : 132
Kinetic Parameter : No kinetic parameter
News : No news
Comment : This mutation mimics the G2320R mutation of thyroglobulin which causes non-goitrous congenital primary hypothyroidism in the WIC-rdw rat. A truncation (stop codon inserted at position 692) was introduced for interaction studies
| Title : Neuroligin trafficking deficiencies arising from mutations in the alpha\/beta-hydrolase fold protein family - De Jaco_2010_J.Biol.Chem_285_28674 |
| Author(s) : De Jaco A , Lin MZ , Dubi N , Comoletti D , Miller MT , Camp S , Ellisman M , Butko MT , Tsien RY , Taylor P |
| Ref : Journal of Biological Chemistry , 285 :28674 , 2010 |
| Abstract : De Jaco_2010_J.Biol.Chem_285_28674 |
| ESTHER : De Jaco_2010_J.Biol.Chem_285_28674 |
| PubMedSearch : De Jaco_2010_J.Biol.Chem_285_28674 |
| PubMedID: 20615874 |
| Gene_locus related to this paper: ratno-3neur , ratno-1neur |