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

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 org...

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Bibliographic Details
Published in:IUBMB life 2020-06, Vol.72 (6), p.1145-1159
Main Authors: Bose, Avipsa, Banerjee, Sanghita, Visweswariah, Sandhya S.
Format: Article
Language:English
Subjects:
cGMP
Diarrhea
Epithelium
Guanylate cyclase
guanylyl cyclase C
human mutation
Intestine
meconium ileus
Mutation
secretory diarrhea
Uroguanylin
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Summary: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.
ISSN:1521-6543
1521-6551
DOI:10.1002/iub.2283