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    發布時間:2022-08-02 21:20 原文鏈接: PKD1L2基因突變因子與藥物介紹

    這個基因編碼多囊蛋白家族的一個成員。編碼的蛋白質包含11個跨膜結構域,即一個脂蛋白/ Cl 1-GPCR蛋白水解位點(GPS)結構域,和一個多囊蛋白-1,脂氧合酶,α毒素(PLAT)結構域。這種蛋白質可能是陽離子通道孔的組成部分這個基因在人類看來是一個多態性假基因,參考基因組編碼一個非功能性等位基因。選擇性剪接導致多個轉錄變體[由RefSeq提供,2019年3月]
    This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, and the reference genome encodes a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2019]

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