The ITGB6 gene: its role in experimental and clinical biology.
The ITGB6 gene: its role in experimental and clinical biology.
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DOI：
10.1016/j.gene.2019.100023
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发表时间：
2020-12-01
期刊：
影响因子：
--
通讯作者：
Marshall, John F
中科院分区：
文献类型：
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作者：
Meecham, Amelia;Marshall, John F
整联蛋白α v β 6是一种跨膜异二聚体糖蛋白，参与伤口愈合和包括纤维化和癌症在内的疾病的发病机制。因此，了解其生物学的分子机制对我们具有重要的临床意义。作为异二聚体中的限制性结合伴侣，β 6亚基控制α v β 6的表达和可用性。在这里，我们描述了我们的理解ITGB6基因编码的β 6亚基，包括其结构，转录和转录后调控，在ITGB6缺陷小鼠和ITGB6突变的临床病例中观察到的生物学效应。整合素α v β 6是一种跨膜异二聚体糖蛋白，参与伤口愈合和疾病的发病机制，包括纤维化和癌症。因此，了解其生物学的分子机制对我们具有重要的临床意义。作为异二聚体中的限制性结合伴侣，β 6亚基控制α v β 6的表达和可用性。在这里，我们描述了我们的理解ITGB6基因编码β 6亚基，包括其结构，转录和转录后调控，在ITGB6缺陷小鼠和ITGB6突变的临床病例中观察到的生物学效应。
Integrin alphavbeta6 is a membrane-spanning heterodimeric glycoprotein involved in wound healing and the pathogenesis of diseases including fibrosis and cancer. Therefore, it is of great clinical interest for us to understand the molecular mechanisms of its biology. As the limiting binding partner in the heterodimer, the beta6 subunit controls alphavbeta6 expression and availability. Here we describe our understanding of the ITGB6 gene encoding the beta6 subunit, including its structure, transcriptional and post-transcriptional regulation, the biological effects observed in ITGB6 deficient mice and clinical cases of ITGB6 mutations.Integrin alphavbeta6 is a membrane-spanning heterodimeric glycoprotein involved in wound healing and the pathogenesis of diseases including fibrosis and cancer. Therefore, it is of great clinical interest for us to understand the molecular mechanisms of its biology. As the limiting binding partner in the heterodimer, the beta6 subunit controls alphavbeta6 expression and availability. Here we describe our understanding of the ITGB6 gene encoding the beta6 subunit, including its structure, transcriptional and post-transcriptional regulation, the biological effects observed in ITGB6 deficient mice and clinical cases of ITGB6 mutations.