Heat-stable enterotoxin receptor
From Ganfyd
Common Name:Heat-stable enterotoxin receptor
Other Names, such as IUPAC Name
STA receptor, guanylyl cyclase C, intestinal guanylate cyclase, EC:4.6.1.2 , hSTAR, GC-C
Biochemical Information
Molecular Structure
Important Issues in Man
Relevant Clinical Literature
UK Guidance
Other Wikis
Medpedia on Heat-stable enterotoxin receptor (Less technical, good quality control)
Wikipedia on Heat-stable enterotoxin receptor (Less technical, ? quality control)
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[1] and oesophagitis[2]. Binding of E. coli heat-stable enterotoxin STa to the receptor cause diarrhoea as it increases levels of cGMP, stimulating water and chloride secretion.
References
- ↑ 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.)
