ITSN1基因突变与药物因子介绍
这个基因编码的蛋白质是一种细胞质膜相关蛋白，它间接地与肌动蛋白组装机协调胞内膜运输。此外，编码的蛋白可能调节了氯氰菊酯包被小泡的形成，并参与了突触小泡的循环这种蛋白质已被证明与dynamin、CDC42、SNAP23、SNAP25、SPIN90、EPS15、EPN1、EPN2和STN2相互作用已发现该基因编码不同亚型的多个转录变体，但迄今为止，只有其中两个的全长特性已被鉴定。[由RefSeq提供，2008年7月]
The protein encoded by this gene is a cytoplasmic membrane-associated protein that indirectly coordinates endocytic membrane traffic with the actin assembly machinery. In addition, the encoded protein may regulate the formation of clathrin-coated vesicles and could be involved in synaptic vesicle recycling. This protein has been shown to interact with dynamin, CDC42, SNAP23, SNAP25, SPIN90, EPS15, EPN1, EPN2, and STN2. Multiple transcript variants encoding different isoforms have been found for this gene, but the full-length nature of only two of them have been characterized so far. [provided by RefSeq, Jul 2008]
