ABCDS
EDNRB
A gene on chromosome 13q22 that encodes endothelin-B receptor, a member of the endothelin receptor group of G-protein-coupledreceptors, located primarily in the vascular endothelial cells where they play a role in vasoconstriction, vasodilation, bronchoconstriction and cell proliferation.
Molecular pathology
EDNRB mutations cause Hirschsprung disease type 2.