Gene Locus : human-TG
Mode of mutation : Natural mutant
Disease : Goiter, familial with hypothyroidism, autosomal recessive
Summary : Congenital goiter with hypothyroidism Natural mutation congenital hypothyroidism with goitre Hishinuma_2005_Thyroid_15_1079
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : 169
Kinetic Parameter : No kinetic parameter
News : No news
Comment : p.G2375R Gly2375Arg c.7123G>A (p.G2356R Gly2356Arg without 19-amino-acid signal peptide) also found as compound heterozygote with A1727HfsX26
| Title : Intrauterine death following intraamniotic triiodothyronine and thyroxine therapy for fetal goitrous hypothyroidism associated with polyhydramnios and caused by a thyroglobulin mutation - Vasudevan_2017_Endocrinol.Diabetes.Metab.Case.Rep_2017_ |
| Author(s) : Vasudevan P , Powell C , Nicholas AK , Scudamore I , Greening J , Park SM , Schoenmakers N |
| Ref : Endocrinol Diabetes Metab Case Rep , 2017 : , 2017 |
| Abstract : Vasudevan_2017_Endocrinol.Diabetes.Metab.Case.Rep_2017_ |
| ESTHER : Vasudevan_2017_Endocrinol.Diabetes.Metab.Case.Rep_2017_ |
| PubMedSearch : Vasudevan_2017_Endocrinol.Diabetes.Metab.Case.Rep_2017_ |
| PubMedID: 28620499 |
| Gene_locus related to this paper: human-TG |
| Title : Thyroglobulin gene mutations producing defective intracellular transport of thyroglobulin are associated with increased thyroidal type 2 iodothyronine deiodinase activity - Kanou_2007_J.Clin.Endocrinol.Metab_92_1451 |
| Author(s) : Kanou Y , Hishinuma A , Tsunekawa K , Seki K , Mizuno Y , Fujisawa H , Imai T , Miura Y , Nagasaka T , Yamada C , Ieiri T , Murakami M , Murata Y |
| Ref : J Clinical Endocrinology Metab , 92 :1451 , 2007 |
| Abstract : Kanou_2007_J.Clin.Endocrinol.Metab_92_1451 |
| ESTHER : Kanou_2007_J.Clin.Endocrinol.Metab_92_1451 |
| PubMedSearch : Kanou_2007_J.Clin.Endocrinol.Metab_92_1451 |
| PubMedID: 17244789 |
| Title : High incidence of thyroid cancer in long-standing goiters with thyroglobulin mutations - Hishinuma_2005_Thyroid_15_1079 |
| Author(s) : Hishinuma A , Fukata S , Kakudo K , Murata Y , Ieiri T |
| Ref : Thyroid , 15 :1079 , 2005 |
| Abstract : Hishinuma_2005_Thyroid_15_1079 |
| ESTHER : Hishinuma_2005_Thyroid_15_1079 |
| PubMedSearch : Hishinuma_2005_Thyroid_15_1079 |
| PubMedID: 16187918 |