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FLASH GENE
Symbol TSHR contributors: mct/npt - updated : 25-08-2009
HGNC name thyroid stimulating hormone receptor
HGNC id 12373
ASSOCIATED DISORDERS
corresponding disease(s) TSHR , GHTF , HFTA
related resource TSH Receptor mutation database
Susceptibility to Graves disease (GD)
Variant & Polymorphism SNP SNPs within a 40 kb region of TSHR intron 1 are highly associated with GD (Brand 2009)
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
in a mouse model of Graves disease, goiter and hyperthyroidism occurred to a significantly greater extent when the adenovirus expressed the free alpha subunit as opposed to a genetically modified TSHR that cleaves minimally into subunits
  • in conclusion, shed alpha subunits induce or amplify the immune response leading to hyperthyroidism in Graves disease