Endothelins are endothelium-derived vasoconstrictor peptides.
Expressed in trophoblasts and placental stem villi vessels, but not in cultured placental smooth muscle cells.
Defects in EDN3 are the cause of Hirschsprung disease type 4 (HSCR4) [MIM:613712]; also known as aganglionic megacolon (MGC). A genetic disorder of neural crest development characterized by the absence of intramural ganglion cells in the hindgut; often resulting in intestinal obstruction. Defects in EDN3 are a cause of congenital central hypoventilation syndrome (CCHS) [MIM:209880]; also known as congenital failure of autonomic control or Ondine curse. CCHS is a rare disorder characterized by abnormal control of respiration in the absence of neuromuscular or lung disease, or an identifiable brain stem lesion. A deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia. Defects in EDN3 are a cause of Waardenburg syndrome type 4 (WS4B) [MIM:613265]; also known as Waardenburg-Shah syndrome. WS4B is characterized by the association of Waardenburg features (depigmentation and deafness) and the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease).
Liu Y et al. Autocrine endothelin-3/endothelin receptor B signaling maintains cellular and molecular properties of glioblastoma stem cells. Mol Cancer Res9:1668-85 (2011).
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