Heat-stable enterotoxin receptor
The GUCY2C gene at 12p12 codes for the 1073 amino acid propeptide processed to form the heat-stable enterotoxin receptor (guanylyl cyclase C). Mutations can cause an autosomial dominant form of famial diarrhoea and are associated with increased risk of inflammatory bowel disease, small bowel obstruction, meconium ileus and oesophagitis. Binding of E. coli heat-stable enterotoxin STa to the receptor cause diarrhoea as it increases levels of cGMP, stimulating water and chloride secretion.
- ↑ Romi H, Cohen I, Landau D, Alkrinawi S, Yerushalmi B, Hershkovitz R, Newman-Heiman N, Cutting GR, Ofir R, Sivan S, Birk OS. Meconium Ileus Caused by Mutations in GUCY2C, Encoding the CFTR-Activating Guanylate Cyclase 2C. American journal of human genetics. 2012 Apr 17.(Epub ahead of print) (Link to article – subscription may be required.)
- ↑ Fiskerstrand T, Arshad N, Haukanes BI, Tronstad RR, Pham KD, Johansson S, Håvik B, Tønder SL, Levy SE, Brackman D, Boman H, Biswas KH, Apold J, Hovdenak N, Visweswariah SS, Knappskog PM. Familial Diarrhea Syndrome Caused by an Activating GUCY2C Mutation. The New England journal of medicine. 2012 Mar 21.(Epub ahead of print) (Link to article – subscription may be required.)