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Mutational landscape of receptor guanylyl cyclase C: Functional analysis and disease‐related mutations
Author(s) -
Bose Avipsa,
Banerjee Sanghita,
Visweswariah Sandhya S.
Publication year - 2020
Publication title -
iubmb life
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.132
H-Index - 113
eISSN - 1521-6551
pISSN - 1521-6543
DOI - 10.1002/iub.2283
Subject(s) - guanylate cyclase 2c , receptor , biology , mutation , secretion , microbiology and biotechnology , guanylate cyclase , genetics , biochemistry , gene
Abstract 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.