EDN3

(redirected from endothelin 3)

EDN3

Notation for a gene for Waardenburg type 4 syndrome gene.
Farlex Partner Medical Dictionary © Farlex 2012

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.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
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References in periodicals archive ?
Lindblom, "Contractile effects of endothelin 1 and endothelin 3 on myometrium and small intramyometrial arteries of pregnant women at term," Gynecologic and Obstetric Investigation, vol.
In addition to the RET gene, we investigated the gene coding for the glial cell-line-derived neurotrophic factor (RET ligand; GDNF), the EDNRB gene, and the gene coding for its ligand, endothelin 3 (EDN3).
Calcium channel blocker/decreased production of Endothelin 3.

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