Function |
Nuclear hormone receptor that can act as a repressor or activator of transcription. High affinity receptor for thyroid hormones, including triiodothyronine and thyroxine. {ECO:0000269PubMed:12699376, ECO:0000269PubMed:14673100, ECO:0000269PubMed:16781732, ECO:0000269PubMed:17418816, ECO:0000269PubMed:18237438, ECO:0000269PubMed:18798561, ECO:0000269PubMed:19926848}.
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Disease Associations |
Generalized thyroid hormone resistance (GTHR) [MIM:188570]: A disease 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). {ECO:0000269PubMed:10660344, ECO:0000269PubMed:1314846, ECO:0000269PubMed:1324420, ECO:0000269PubMed:1563081, ECO:0000269PubMed:1587388, ECO:0000269PubMed:1619012, ECO:0000269PubMed:1653889, ECO:0000269PubMed:1661299, ECO:0000269PubMed:16804041, ECO:0000269PubMed:1846005, ECO:0000269PubMed:19268523, ECO:0000269PubMed:2153155, ECO:0000269PubMed:2510172, ECO:0000269PubMed:7833659, ECO:0000269PubMed:8175986, ECO:0000269PubMed:8514853, ECO:0000269PubMed:8664910, ECO:0000269PubMed:8889584}. Note=The disease is caused by mutations affecting the gene represented in this entry.Generalized thyroid hormone resistance autosomal recessive (GTHRAR) [MIM:274300]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]: 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. {ECO:0000269PubMed:7528740, ECO:0000269PubMed:8381821}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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