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  • 發布時間:2022-08-04 16:01 原文鏈接: TYK2基因突變因子與藥物介紹

    這個基因編碼酪氨酸激酶的一個成員,更具體地說,是janus激酶(jaks)蛋白家族。該蛋白與I型和II型細胞因子受體的胞質結構域相關,并通過磷酸化受體亞單位釋放細胞因子信號。它也是I型和III型干擾素信號通路的組成部分。因此,它可能在抗病毒免疫中發揮作用。該基因突變與高免疫球蛋白e綜合征(hies)有關,hies是一種以血清免疫球蛋白e升高為特征的原發性免疫缺陷。
    This gene encodes a member of the tyrosine kinase and, more specifically, the Janus kinases (JAKs) protein families. This protein associates with the cytoplasmic domain of type I and type II cytokine receptors and promulgate cytokine signals by phosphorylating receptor subunits. It is also component of both the type I and type III interferon signaling pathways. As such, it may play a role in anti-viral immunity. A mutation in this gene has been associated with hyperimmunoglobulin E syndrome (HIES) - a primary immunodeficiency characterized by elevated serum immunoglobulin E. [provided by RefSeq, Jul 2008]

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