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Endothelin receptors from the gene to the human handbooks in pharmacology and toxicology 1st edition by robert r ruffolo jr author. Mutations in either gene are links to waardenburg syndrome clinical significance the multigenic disorder hirschsprung disease type 2 is due to mutation in endothelin receptor type b gene animals in horses a mutation in the middle of the ednrb gene ile118lys when homozygous causes lethal white syndrome. Handbook of pharmacology on aging 2nd edition by jay roberts endothelin receptors from the gene to the human 1st edition handbooks in pharmacology and toxicology inflammatory cells and mediators in bronchial asthma 1st edition by devendra k agrawal robert g townley. The ednrb gene provides instructions for making a protein called endothelin receptor type b this protein is located on the surface of cells and functions as a signaling mechanism transmitting information from outside the cell to inside the cell