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SNX6基因突变因子与药物介绍

2022.8.03

该基因编码分选Nexin家族的成员。这个家族的成员包含一个phox(px)结构域,它是一个磷酸肌醇结合结构域,参与细胞内的运输。该蛋白与瘦素受体的长亚型、受体丝氨酸苏氨酸激酶的转化生长因子β家族、血小板衍生生长因子的受体酪氨酸激酶、胰岛素和表皮生长因子相关。该蛋白可能通过PX结构域和分子卷曲螺旋区的相互作用与家族成员蛋白形成低聚物复合物该蛋白与前体整合位点1蛋白结合后,从细胞质向细胞核转移。这个基因产生两个转录本,编码两个不同的亚型[由RefSeq提供,2008年7月]
This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein associates with the long isoform of the leptin receptor, the transforming growth factor-beta family of receptor serine-threonine kinases, and with receptor tyrosine kinases for platelet-derived growth factor, insulin, and epidermal growth factor. This protein may form oligomeric complexes with family member proteins through interactions of both the PX domain and the coiled coil regions of the molecules. Translocation of this protein from the cytoplasm to the nucleus occurs after binding to proviral integration site 1 protein. This gene results in two transcripts encoding two distinct isoforms. [provided by RefSeq, Jul 2008]

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