THRB
Description
The THRB (thyroid hormone receptor beta) is a protein-coding gene located on chromosome 3.
Thyroid hormone receptor beta (TR-beta), also known as nuclear receptor subfamily 1, group A, member 2 (NR1A2), is a nuclear receptor protein that in humans is encoded by the THRB gene. The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine (T3). 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. Defects 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 transcript variants have been observed for this gene, but the full-length nature of only one has been observed so far.
Thyroid hormone receptor beta (THRB) acts as a nuclear receptor, functioning as both a repressor and activator of transcription. It binds thyroid hormones, including triiodothyronine and thyroxine, with high affinity.
THRB is also known as C-ERBA-2, C-ERBA-BETA, ERBA2, GRTH, NR1A2, PRTH, THR1, THRB1, THRB2, THRbeta, THRbeta1, TRb, TRbeta, TRbeta1, Thrbeta2.
Associated Diseases
- Thyroid hormone resistance, generalized, autosomal dominant
- Thyroid hormone resistance, generalized, autosomal recessive
- Thyroid hormone resistance, selective pituitary
