Gene Locus : mouse-thyro
Mode of mutation : Natural mutant
Disease :
Summary : Congenital goiter with hypothyroidism Natural mutation Causes congenital goiter with hypothyroidism in the cog\/cog mouse Kim_1998_Proc.Natl.Acad.Sci.U.S.A_95_9909
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification : Congenital goiter with hypothyroidism || Intracellular retention
Torpedo_number : 97
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
p.L2283P Leu2283Pro (p.L2263P Leu2263Pro in mature protein without 20-amino-acids signal peptide)
| 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 |
| Title : A single amino acid change in the acetylcholinesterase-like domain of thyroglobulin causes congenital goiter with hypothyroidism in the cog\/cog mouse: a model of human endoplasmic reticulum storage diseases - Kim_1998_Proc.Natl.Acad.Sci.U.S.A_95_9909 |
| Author(s) : Kim PS , Hossain SA , Park YN , Lee I , Yoo SE , Arvan P |
| Ref : Proc Natl Acad Sci U S A , 95 :9909 , 1998 |
| Abstract : |
| PubMedSearch : Kim_1998_Proc.Natl.Acad.Sci.U.S.A_95_9909 |
| PubMedID: 9707574 |
| Gene_locus related to this paper: mouse-thyro |