Thyroid Hormone Receptor, A2-Isotype (THRA) Antibody – Mouse Monoclonal

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. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

Function: Nuclear hormone receptor that can act as a repressor or activator of transcription. High affinity receptor for thyroid hormones, including triiodothyronine and thyroxine. Ref.14 Ref.18 Ref.20 Ref.21

Subunit structure: Binds DNA as a dimer; homodimer and heterodimer with RXRB. Interacts with NCOA3 and NCOA6 coactivators, leading to a strong increase of transcription of target genes. Probably interacts with SFPQ. Interacts with C1D

By similarity. Interacts with AKAP13. Interacts with TP53INP2. Ref.11 Ref.12 Ref.13 Ref.15 Ref.19

Subcellular location: Nucleus.

Domain: Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding domain.

Involvement in disease: Hypothyroidism, congenital, non-goitrous, 6 (CHNG6) [MIM:614450]: A disease characterized by growth retardation, developmental retardation, skeletal dysplasia, borderline low thyroxine levels and high triiodothyronine levels. There is differential sensitivity to thyroid hormone action, with retention of hormone responsiveness in the hypothalamic pituitary axis and liver but skeletal, gastrointestinal, and myocardial resistance.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.17

Sequence similarities: Belongs to the nuclear hormone receptor family. NR1 subfamily.Contains 1 nuclear receptor DNA-binding domain.