甲状腺激素β受体
位於3號人類染色體的基因
甲状腺激素β受体(TR-β,或THR-β)也称为核受体亚家族1,A 组,成员2(NR1A2),是一种核受体蛋白,在人类中由THR-β基因编码。[7][8]
功能
该基因编码的蛋白质为三碘甲腺原氨酸的核激素受体。它是甲状腺激素的多种受体之一,已被证明可以调节甲状腺激素的生物活性。小鼠基因敲除研究表明,不同的受体虽然具有一定程度的冗余,但可能介导甲状腺激素的不同功能。已知该基因的缺陷是导致:广泛性 甲状腺激素抵抗(GTHR)的成因。该综合征疾病的特征为:甲状腺肿大;循环甲状腺激素(T3-T4)水平增加;同时促甲状腺激素(TSH)正常或略微升高。现已发现到该基因的几种转录变体,但迄今为止只观察到一种的全长天然基因。[9]
基因互作
甲状腺激素β受体已被证明与以下存在基因相互作用:
参考文献
- ^ 與甲状腺激素β受体相關的疾病;在維基數據上查看/編輯參考.
- ^ 對Thyroid hormone receptor beta起作用的藥物;在維基數據上查看/編輯參考.
- ^ 跳转到: 3.0 3.1 3.2 GRCh38: Ensembl release 89: ENSG00000151090 - Ensembl, May 2017
- ^ 跳转到: 4.0 4.1 4.2 GRCm38: Ensembl release 89: ENSMUSG00000021779 - Ensembl, May 2017
- ^ Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Mouse PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Entrez Gene: THRA thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian).
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- ^ Entrez Gene: THRB thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian).
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- ^ Zhu XG, Park KS, Kaneshige M, Bhat MK, Zhu Q, Mariash CN, McPhie P, Cheng SY. The orphan nuclear receptor Ear-2 is a negative coregulator for thyroid hormone nuclear receptor function. Mol. Cell. Biol. April 2000, 20 (7): 2604–18. PMC 85476 . PMID 10713182. doi:10.1128/MCB.20.7.2604-2618.2000.
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扩展阅读
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