The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that the different receptors, while having certain extent of redundancy, may mediate different functions of thyroid hormone. Mutations in this gene are known to be a cause of generalized thyroid hormone resistance (GTHR), a syndrome characterized by goiter and high levels of circulating thyroid hormone (T3-T4), with normal or slightly elevated thyroid stimulating hormone (TSH). Several alternatively spliced transcript variants encoding the same protein have been observed for this gene. [provided by RefSeq, Jul 2008] (from
Takeuchi et al., Ōtsu, Japan. In Bmc Endocr Disord, 31 Dec 2015
CASE PRESENTATION: The present case study concerns an 8-year-old Japanese girl with a severe phenotype of RTH (TSH, fT3, and fT4 were 34.0 mU/L, >25.0 pg/mL and, >8.0 ng/dL, respectively), caused by a novel heterozygous frameshift mutation in exon 10 of the thyroid hormone receptor beta gene (THRB), c.1347-1357 del actcttccccc : p.E449DfsX11.
Boland et al., Dublin, Ireland. In Animal, 20 Dec 2015
Iodine (CaIO3) supplementation of the dam increased the relative expression (P<0.05) of the B2M, PIGR and MYC genes in the ileum of the lamb, before colostrum consumption; while the expression of THRB declined when compared with the progeny of C dams (P<0.01).
Then the evidence concerning present state of the knowledge about active transport of TH to the brain, the role of iodothyronine deiodinase type 2 and 3 in the setting concentration of T3 in the brain and GBM cells, and finally knowledge about the role of genomic (TH nuclear receptors THRA and THRB) and non-genomic modes (membrane integrin receptor αvβ3) of action of TH and its importance for GBM was outlined.
Kullo et al., Rochester, United States. In Mayo Clin Proc, 2012
Genes in the erythroid differentiation and cell cycle regulation pathways influence interindividual variation in RBC indices. Our results provide insights into the molecular basis underlying variation in RBC traits.
Refetoff et al., Chicago, United States. In J Clin Endocrinol Metab, 2012
report of three new subjects, from two families, in whom resistance to thyroid hormone was associated with homozygous mutations in the THRB gene; report strengthens the concept that the mutated TRbeta interferes with the function of the TRalpha1 in humans