1nq2: Difference between revisions

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[[Image:1nq2.png|left|200px]]
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{{STRUCTURE_1nq2|  PDB=1nq2  |  SCENE=  }}  
{{STRUCTURE_1nq2|  PDB=1nq2  |  SCENE=  }}  
===Two RTH Mutants with Impaired Hormone Binding===
===Two RTH Mutants with Impaired Hormone Binding===
{{ABSTRACT_PUBMED_12554782}}


==Disease==
[[http://www.uniprot.org/uniprot/THB_HUMAN THB_HUMAN]] Defects in THRB are the cause of generalized thyroid hormone resistance (GTHR) [MIM:[http://omim.org/entry/188570 188570]]. GTHR is 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).<ref>PMID:2510172</ref><ref>PMID:2153155</ref><ref>PMID:1846005</ref><ref>PMID:1661299</ref><ref>PMID:1653889</ref><ref>PMID:1563081</ref><ref>PMID:1314846</ref><ref>PMID:1619012</ref><ref>PMID:1587388</ref><ref>PMID:1324420</ref><ref>PMID:8514853</ref><ref>PMID:8175986</ref><ref>PMID:7833659</ref><ref>PMID:8664910</ref><ref>PMID:8889584</ref><ref>PMID:10660344</ref><ref>PMID:16804041</ref><ref>PMID:19268523</ref>  Defects in THRB are the cause of generalized thyroid hormone resistance autosomal recessive (GTHRAR) [MIM:[http://omim.org/entry/274300 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.  Defects in THRB are the cause of selective pituitary thyroid hormone resistance (PRTH) [MIM:[http://omim.org/entry/145650 145650]]; also known as 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.<ref>PMID:7528740</ref><ref>PMID:8381821</ref>


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==Function==
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[[http://www.uniprot.org/uniprot/THB_HUMAN THB_HUMAN]] High affinity receptor for triiodothyronine.<ref>PMID:17418816</ref>  
(as it appears on PubMed at http://www.pubmed.gov), where 12554782 is the PubMed ID number.
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{{ABSTRACT_PUBMED_12554782}}


==About this Structure==
==About this Structure==
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==Reference==
==Reference==
<ref group="xtra">PMID:012554782</ref><references group="xtra"/>
<ref group="xtra">PMID:012554782</ref><references group="xtra"/><references/>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Apriletti, J W.]]
[[Category: Apriletti, J W.]]
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