THRB

Thyroid hormone receptor beta ;
Nuclear receptor subfamily 1 group A member 2 ;
c-erbA-2 ;
c-erbA-beta ;

disease:Defects in THRB are the cause of generalized thyroid hormone resistance (GTHR) [MIM:188570, 274300]. 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. Affected individuals may also have attention deficit-hyperactivity disorders (ADHD) and language difficulties. GTHR patients also have high levels of circulating thyroid hormones (T3-T4), with normal or slightly elevated thyroid stimulating hormone (TSH).,disease:Defects in THRB are the cause of selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]; also called familial hyperthyroidism due to inappropriate thyrotropin secretion. PRTH is a 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.,domain:Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal steroid-binding domain.,function:High affinity receptor for triiodothyronine.,similarity:Belongs to the nuclear hormone receptor family. NR1 subfamily.,similarity:Contains 1 nuclear receptor DNA-binding domain.,subunit:Interacts with NOCA7 in a ligand-inducible manner. Interacts with C1D.,

transcription, transcription, DNA-dependent, regulation of transcription, DNA-dependent, regulation of transcription from RNA polymerase II promoter, regulation of heart contraction, negative regulation of biosynthetic process, positive regulation of biosynthetic process, positive regulation of macromolecule biosynthetic process, negative regulation of macromolecule biosynthetic process, positive regulation of macromolecule metabolic process, negative regulation of macromolecule metabolic process, positive regulation of gene expression, negative regulation of gene expression,negative regulation of transcription, regulation of lipid metabolic process, regulation of ossification, negative regulation of cellular biosynthetic process, positive regulation of cellular biosynthetic process, regulation of chondrocyte differentiation, positive regulation of chondrocyte differentiation, RNA biosynthetic process, regulation of system process, regulation of transcription, positive regulation of cell differentiation, positive regulation of ossification,positive regulation of transcription, DNA-dependent, negative regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process, positive regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process, positive regulation of transcription, positive regulation of transcription from RNA polymerase II promoter,positive regulation of developmental process, negative regulation of nitrogen compound metabolic process, positive regulation of nitrogen compound metabolic process, regulation of RNA metabolic process, positive regulation of RNA metabolic process,

Nucleus.