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Mutational landscape of receptor guanylyl cyclase C: Functional analysis and disease-related mutations

Bose, A and Banerjee, SV and Visweswariah, SS (2020) Mutational landscape of receptor guanylyl cyclase C: Functional analysis and disease-related mutations. In: IUBMB Life, 72 (6). pp. 1145-1159.

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Official URL: https://dx.doi.org/10.1002/iub.2283


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. © 2020 International Union of Biochemistry and Molecular Biology

Item Type: Journal Article
Publication: IUBMB Life
Publisher: Blackwell Publishing Ltd
Additional Information: Copy right for this article belongs to Blackwell Publishing Ltd
Keywords: cGMP, guanylyl cyclase C, human mutation, meconium ileus, secretory diarrhea
Department/Centre: Division of Biological Sciences > Molecular Reproduction, Development & Genetics
Date Deposited: 04 Nov 2020 11:46
Last Modified: 04 Nov 2020 11:46
URI: http://eprints.iisc.ac.in/id/eprint/65308

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