EDN3

EDN3 is a gene that encodes the protein Endothelin 3. This protein is a member of the endothelin protein family and plays a significant role in the development and function of several biological systems, including the cardiovascular and nervous systems.

Function

The Endothelin family, which includes EDN3, is known for its potent vasoconstrictive properties. These proteins are produced by vascular endothelial cells and have a variety of functions, including the regulation of vascular tone, cell proliferation, and hormone production. EDN3, in particular, is involved in the development of neural crest cells, which give rise to a variety of cell types, including melanocytes, neurons, and glia.

Clinical significance

Mutations in the EDN3 gene have been associated with Hirschsprung disease, a congenital disorder characterized by the absence of ganglion cells in the colon, resulting in severe constipation and intestinal obstruction. In addition, mutations in EDN3 can also cause Waardenburg syndrome, a genetic disorder that can lead to hearing loss and changes in pigmentation of the hair, skin, and eyes.

See also

• Endothelin
• Hirschsprung disease
• Waardenburg syndrome

External links

• EDN3 at the National Center for Biotechnology Information

EDN3 Resources
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