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  • 發布時間:2022-08-08 18:41 原文鏈接: AHNAK基因編碼功能及結構描述

    該基因編碼的蛋白是一個大的(700kda)結構支架蛋白,由一個具有128個a a重復序列的中心結構域組成。編碼蛋白可能在血腦屏障形成、細胞結構和遷移、心肌鈣通道調節、腫瘤轉移等多種過程中發揮作用。編碼該基因的17 kDa亞型存在更短的變體,更短的異構體啟動調節該基因的選擇性剪接的反饋環。[由RefSeq提供,2016年10月]

    The protein encoded by this gene is a large (700 kDa) structural scaffold protein consisting of a central domain with 128 aa repeats. The encoded protein may play a role in such diverse processes as blood-brain barrier formation, cell structure and migration, cardiac calcium channel regulation, and tumor metastasis. A much shorter variant encoding a 17 kDa isoform exists for this gene, and the shorter isoform initiates a feedback loop that regulates alternative splicing of this gene. [provided by RefSeq, Oct 2016]

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