Mutational landscape of receptor guanylyl cyclase C: Functional analysis and disease-related mutations.
Mutational landscape of receptor guanylyl cyclase C: Functional analysis and disease-related mutations.
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DOI：
10.1002/iub.2283
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发表时间：
2020-06
期刊：
影响因子：
4.6
通讯作者：
Visweswariah SS
中科院分区：
文献类型：
--
作者：
Bose A;Banerjee S;Visweswariah SS
鸟苷酸环化酶C（GC-C）是引起腹泻的热稳定肠毒素以及内源性配体鸟苷素和尿鸟苷素的受体。GC-C主要在肠上皮中表达，并调节肠道中的液体和离子分泌。该受体具有复杂的结构域组织，在缺乏结构信息的情况下，突变分析为该蛋白质的调控机制提供了线索。在这里，我们回顾了这种受体的突变情况，揭示了对其活性至关重要的调节特征。我们还总结了现有的信息GC-C突变已报告在人类中，并有助于严重的胃肠道异常。由于GC-C也在肠外组织中表达，因此迄今为止在人类中报告的突变可能也会影响其他器官系统，因此未来需要对这些患者进行密切观察。
Guanylyl cyclase C (GC-C) is the receptor for the heat-stable enterotoxin, which causes diarrhea, and the endogenous ligands, guanylin and uroguanylin. GC-C is predominantly expressed in the intestinal epithelium and regulates fluid and ion secretion in the gut. The receptor has a complex domain organization, and in the absence of structural information, mutational analysis provides clues to mechanisms of regulation of this protein. Here, we review the mutational landscape of this receptor that reveals regulatory features critical for its activity. We also summarize the available information on mutations in GC-C that have been reported in humans and contribute to severe gastrointestinal abnormalities. Since GC-C is also expressed in extra-intestinal tissues, it is likely that mutations thus far reported in humans may also affect other organ systems, warranting a close observation of these patients in future.
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