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    發布時間:2022-08-09 15:29 原文鏈接: FGD4基因編碼功能及結構描述

    該基因編碼一種蛋白質,參與肌動蛋白細胞骨架和細胞形狀的調節該蛋白含有一個肌動蛋白絲結合結構域,該結構域與其dbl同源結構域和一個pleckstrin同源結構域一起可以形成小孢子。該蛋白能獨立于肌動蛋白絲結合區激活MAPK8,并通過結合的GDP與游離GTP的交換參與CDC42的激活CDC42的激活也使該蛋白在介導微小隱孢子蟲(一種感染胃腸道的細胞內寄生蟲)的細胞侵襲中發揮作用該基因突變可導致4h型腓骨肌萎縮癥(cmt4h),一種外周神經系統疾病。已經發現該基因的多個交替剪接的轉錄變體編碼不同的亞型。[由RefSeq提供,2015年1月]

    This gene encodes a protein that is involved in the regulation of the actin cytoskeleton and cell shape. This protein contains an actin filament-binding domain, which together with its Dbl homology domain and one of its pleckstrin homology domains, can form microspikes. This protein can activate MAPK8 independently of the actin filament-binding domain, and it is also involved in the activation of CDC42 via the exchange of bound GDP for free GTP. The activation of CDC42 also enables this protein to play a role in mediating the cellular invasion of Cryptosporidium parvum, an intracellular parasite that infects the gastrointestinal tract. Mutations in this gene can cause Charcot-Marie-Tooth disease type 4H (CMT4H), a disorder of the peripheral nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]

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