Notation for a gene for Waardenburg type 4 syndrome gene.
Farlex Partner Medical Dictionary © Farlex 2012
EDN3A 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).
EDN3 mutations cause Hirschsprung disease type 4 and Waardenburg syndrome, both of which are congenital disorders of neural crest-derived cells.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.