Endothelin-3
Function
Endothelins are endothelium-derived vasoconstrictor peptides.
Involvement in disease
Hirschsprung disease 4
HSCR4
A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child.
None
The disease is caused by variants affecting the gene represented in this entry.
Waardenburg syndrome 4B
WS4B
A disorder characterized by the association of Waardenburg features (depigmentation and deafness) with the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease).
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the endothelin/sarafotoxin family.
Tissue Specificity
Expressed in trophoblasts and placental stem villi vessels, but not in cultured placental smooth muscle cells.
Cellular localization
- Secreted
Alternative names
Endothelin-3, ET-3, Preproendothelin-3, PPET3, EDN3