Thyroid Hormone Receptor beta, Avian erythroblastic leukemia viral v erb a oncogene homolog 2, C ERBA 2, C ERBA BETA, c-erbA-2, c-erbA-beta, ERBA 2, ERBA BETA, ERBA2, Erythroblastic leukemia viral v erb a oncogene homolog 2 avian, generalized resistance to thyroid hormone, GRTH, MGC126109, MGC126110, NR1A2, Nuclear receptor subfamily 1 group A member 2, Oncogene ERBA2, PRTH, THB_HUMAN, THR 1, THR1, THRB 1,
Thyroid hormone receptors (TRs) are ligand-dependent transcription factors that mediate the biological activities of thyroid hormone (T3). Thyroid hormone receptor b2 (TRb2) is a high affinity receptor for triiodothyronine which belongs to the nuclear hormone receptor family and the NR1 subfamily. It is composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal steroid-binding domain. Defects in the receptor result in generalized thyroid hormone resistance (GTHR). GTHR is transmitted as an autosomal dominant trait, but an autosomal recessive form also exists. The disease is characterized by goiter, abnormal mental functions, increased susceptibility to infections, abnormal growth and bone maturation, tachycardia and deafness. GTHR patients also have high levels of circulating thyroid hormones (T3-T4), with normal or slightly elevated thyroid stimulating hormone.
