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  • 發布時間:2022-07-21 11:25 原文鏈接: 與Wnt信號通路相關因子介紹CUL3

    這個基因編碼一個庫林蛋白家族的成員。編碼蛋白作為e3泛素連接酶復合物的核心組分和支架蛋白,在多泛素化和隨后的降解過程中起著關鍵作用。包括編碼蛋白在內的復合物也可能在內胚體的晚期成熟中起作用。該基因突變是2e型假醛固酮減少癥的一個原因。另外,已經觀察到該基因編碼多個亞型的剪接轉錄變體。[由RefSeq提供,2012年3月]
    This gene encodes a member of the cullin protein family. The encoded protein plays a critical role in the polyubiquitination and subsequent degradation of specific protein substrates as the core component and scaffold protein of an E3 ubiquitin ligase complex. Complexes including the encoded protein may also play a role in late endosome maturation. Mutations in this gene are a cause of type 2E pseudohypoaldosteronism. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]

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