甲狀腺激素β受體
位於3號人類染色體的基因
甲狀腺激素β受體(TR-β,或THR-β)也稱為核受體亞家族1,A 組,成員2(NR1A2),是一種核受體蛋白,在人類中由THR-β基因編碼。[7][8]
功能
該基因編碼的蛋白質為三碘甲腺原氨酸的核激素受體。它是甲狀腺激素的多種受體之一,已被證明可以調節甲狀腺激素的生物活性。小鼠基因敲除研究表明,不同的受體雖然具有一定程度的冗餘,但可能介導甲狀腺激素的不同功能。已知該基因的缺陷是導致:廣泛性 甲狀腺激素抵抗(GTHR)的成因。該綜合徵疾病的特徵為:甲狀腺腫大;循環甲狀腺激素(T3-T4)水平增加;同時促甲狀腺激素(TSH)正常或略微升高。現已發現到該基因的幾種轉錄變體,但迄今為止只觀察到一種的全長天然基因。[9]
基因互作
甲狀腺激素β受體已被證明與以下存在基因相互作用:
參考文獻
- ^ 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.
- ^ 3.0 3.1 3.2 GRCh38: Ensembl release 89: ENSG00000151090 - Ensembl, May 2017
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- ^ 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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