TR-beta1 Antibody – Rabbit

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]

TR-beta1: nuclear hormone receptor and transcription factor. High affinity receptor for triiodothyronine. Homolog of the viral oncogene erbB. Two splice variant isoforms have been described.

Protein type: Nuclear receptor; DNA-binding

Chromosomal Location of Human Ortholog: 3p24.2

Cellular Component: nucleoplasm; nuclear chromatin; nucleus

Molecular Function: protein binding; enzyme binding; DNA binding; zinc ion binding; chromatin DNA binding; sequence-specific DNA binding; steroid hormone receptor activity; thyroid hormone receptor activity; transcription factor activity; transcription corepressor activity

Biological Process: negative regulation of female receptivity; transcription initiation from RNA polymerase II promoter; organ morphogenesis; female courtship behavior; sensory perception of sound; intracellular receptor-mediated signaling pathway; transcription, DNA-dependent; gene expression; steroid hormone mediated signaling; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription from RNA polymerase II promoter; regulation of heart contraction

Disease: Thyroid Hormone Resistance, Selective Pituitary; Thyroid Hormone Resistance, Generalized, Autosomal Dominant; Thyroid Hormone Resistance, Generalized, Autosomal Recessive