EDN3

EDN3

Notation for a gene for Waardenburg type 4 syndrome gene.

EDN3

A gene on chromosome 20q13.2-q13.3 that encodes endothelin 3, a potent vasoconstrictor of the endothelin family, which is a ligand for endothelin receptor type B, the interaction of which is essential for development of neural crest-derived cells (e.g., melanocytes and enteric neurons).

Molecular pathology
EDN3 mutations cause Hirschsprung disease type 4 and Waardenburg syndrome, both of which are congenital disorders of neural crest-derived cells.