THRB

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]

Full Name

THRB Gene(Protein Coding) Thyroid Hormone Receptor Beta

Function

Nuclear hormone receptor that can act as a repressor or activator of transcription. High affinity receptor for thyroid hormones, including triiodothyronine and thyroxine.

Biological Process

Biological Process cell differentiationSource:GO_Central1 Publication
Biological Process cellular response to thyroid hormone stimulusSource:ARUK-UCL1 Publication
Biological Process DNA-templated transcriptionSource:ProtInc1 Publication
Biological Process female courtship behaviorSource:Ensembl
Biological Process hormone-mediated signaling pathwaySource:GO_Central1 Publication
Biological Process mRNA transcription by RNA polymerase IISource:ComplexPortal1 Publication
Biological Process negative regulation of female receptivitySource:Ensembl
Biological Process negative regulation of transcription by RNA polymerase IISource:GO_Central1 Publication
Biological Process positive regulation of thyroid hormone mediated signaling pathwaySource:ComplexPortal1 Publication
Biological Process positive regulation of transcription by RNA polymerase IISource:ComplexPortal1 Publication
Biological Process regulation of heart contractionSource:Ensembl
Biological Process retinal cone cell apoptotic processSource:Ensembl
Biological Process retinal cone cell developmentSource:Ensembl
Biological Process sensory perception of soundSource:Ensembl
Biological Process thyroid hormone mediated signaling pathwaySource:GO_Central1 Publication
Biological Process type I pneumocyte differentiationSource:Ensembl

Cellular Location

Nucleus

Involvement in disease

Thyroid hormone resistance, generalized, autosomal dominant (GRTHD):
An autosomal dominant disease characterized by high levels of circulating thyroid hormones (T3-T4), goiter, abnormal mental functions, increased susceptibility to infections, abnormal growth and bone maturation, tachycardia and deafness. Affected individuals may also have attention deficit-hyperactivity disorders (ADHD) and language difficulties. Patients have normal or slightly elevated thyroid stimulating hormone (TSH).
Thyroid hormone resistance, generalized, autosomal recessive (GRTHR):
An autosomal recessive disorder characterized by goiter, clinical euthyroidism, end-organ unresponsiveness to thyroid hormone, abnormal growth and bone maturation, and deafness. Patients also have high levels of circulating thyroid hormones, with elevated thyroid stimulating hormone.
Selective pituitary thyroid hormone resistance (PRTH):
Variant form of thyroid hormone resistance and is characterized by clinical hyperthyroidism, with elevated free thyroid hormones, but inappropriately normal serum TSH. Unlike GRTH, where the syndrome usually segregates with a dominant allele, the mode of inheritance in PRTH has not been established.