Western blot using THRB polyclonal antibody (Cat # PAB11277) shows detection of in vitro translated THRB (lane 2) and human thyroid stable cell line expressing THTRB (lane 3). No staining is evident in non transfected human thyroid cells (lane 1), over expressed THRA (lane 4) or HeLa stable cell line expressing THRA (lane 5). The band at ~62 kDa, indicated by the arrowheads, corresponds to THRB. Personal communication, H. Ying, NCI, Bethesda, MD.
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