EDN3 : endothelin 3
Description
The EDN3 (endothelin 3) is a protein-coding gene located on chromosome 20.
The EDN3 gene provides instructions for making a protein called endothelin 3. Endothelins are a family of proteins involved in the development and function of blood vessels, hormone production, and cell growth and division. Endothelin 3 specifically works with endothelin receptor type B (EDNRB gene) to guide neural crest cells during development. This interaction is crucial for the formation of enteric nerves in the intestine and the production of melanocytes, which produce melanin, the pigment responsible for skin, hair, and eye color. Melanin also plays a role in inner ear function.
EDN3 is also known as ET-3, ET3, HSCR4, PPET3, WS4B.
Associated Diseases
- Waardenburg-Shah syndrome
- Waardenburg syndrome, type 4B
- Hirschsprung disease, susceptibility to, 4
- Hirschsprung disease
- Congenital central hypoventilation syndrome
- Waardenburg syndrome
