Gene Locus : human-TG
Mode of mutation : Natural mutant
Disease : Goiter, familial with hypothyroidism, autosomal recessive
Summary : Siffo_2018_Mol.Cell.Endocrinol_473_1
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : 179
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
p.W2365R Trp2365Arg c.7093T>C (p.W2346R Trp2346Arg without 19-aminoacid signal peptide) l homozygous missense mutation
| Title : Thyroid hormone synthesis continues despite biallelic thyroglobulin mutation with cell death - Zhang_2021_JCI.Insight_6_e148496 |
| Author(s) : Zhang X , Kellogg AP , Citterio CE , Zhang H , Larkin D , Morishita Y , Targovnik HM , Balbi VA , Arvan P |
| Ref : JCI Insight , 6 : , 2021 |
| Abstract : |
| PubMedSearch : Zhang_2021_JCI.Insight_6_e148496 |
| PubMedID: 33914707 |
| Gene_locus related to this paper: human-TG |
| Title : Molecular analysis of thyroglobulin mutations found in patients with goiter and hypothyroidism - Siffo_2018_Mol.Cell.Endocrinol_473_1 |
| Author(s) : Siffo S , Adrover E , Citterio CE , Miras MB , Balbi VA , Chiesa A , Weill J , Sobrero G , Gonzalez VG , Papendieck P , Martinez EB , Gonzalez-Sarmiento R , Rivolta CM , Targovnik HM |
| Ref : Mol Cell Endocrinol , 473 :1 , 2018 |
| Abstract : |
| PubMedSearch : Siffo_2018_Mol.Cell.Endocrinol_473_1 |
| PubMedID: 29275168 |
| Gene_locus related to this paper: human-TG |