ITGB6 基因：在实验和临床生物学中的作用。
The ITGB6 gene: its role in experimental and clinical biology.
机构信息
Centre for Tumour Biology, Barts Cancer Institute, Cancer Research UK Centre of Excellence, Queen Mary University of London, John Vane Science Centre, Charterhouse Square, London EC1M 6BQ, UK.
Centre for Tumour Biology, Barts Cancer Institute, Cancer Research UK Centre of Excellence, Queen Mary University of London, John Vane Science Centre, Charterhouse Square, London EC1M 6BQ, UK.
出版信息
Gene. 2020 Dec;763S:100023. doi: 10.1016/j.gene.2019.100023. Epub 2019 Nov 6.
Integrin αvβ6 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 β6 subunit controls αvβ6 expression and availability. Here we describe our understanding of the ITGB6 gene encoding the β6 subunit, including its structure, transcriptional and post-transcriptional regulation, the biological effects observed in ITGB6 deficient mice and clinical cases of ITGB6 mutations.
整合素 αvβ6 是一种跨膜异二聚体糖蛋白，参与创伤愈合以及包括纤维化和癌症在内的多种疾病的发病机制。因此，了解其生物学的分子机制对我们来说具有重要的临床意义。作为异二聚体中的限制结合伴侣，β6 亚基控制 αvβ6 的表达和可及性。在这里，我们描述了我们对编码β6 亚基的 ITGB6 基因的理解，包括其结构、转录和转录后调控、在 ITGB6 缺陷型小鼠中观察到的生物学效应以及 ITGB6 突变的临床病例。
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