Full Name: Guanylate Cyclase 2C
BACKGROUND: This gene encodes a transmembrane protein that functions as a receptor for endogenous peptides guanylin and uroguanylin, and the heat-stable E. coli enterotoxin. The encoded protein activates the cystic fibrosis transmembrane conductance regulator. Mutations in this gene are associated with familial diarrhea (autosomal dominant) and meconium ileus (autosomal recessive).
Synonyms: GC-C; STAR; DIAR6; GUC2C; MECIL; MUCIL
Research Areas: Signal Transduction
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