THRB
Domain
Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding domain.
Function
Nuclear hormone receptor that can act as a repressor or activator of transcription. High affinity receptor for thyroid hormones, including triiodothyronine and thyroxine.
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).
None
The disease is caused by variants affecting the gene represented in this entry.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the nuclear hormone receptor family. NR1 subfamily.
Cellular localization
- Nucleus
Alternative names
ERBA2, NR1A2, THR1, THRB, Thyroid hormone receptor beta, Nuclear receptor subfamily 1 group A member 2, c-erbA-2, c-erbA-beta