Endothelin-3

Endothelin-3 (ET-3) is a member of the endothelin family, which consists of potent vasoconstrictor peptides produced primarily in the endothelium. It is encoded by the EDN3 gene in humans.

Structure

Endothelin-3 is a 21-amino acid peptide with a molecular weight of approximately 2.5 kDa. It shares a similar structure with other members of the endothelin family, endothelin-1 and endothelin-2, with a unique disulfide bridge between two cysteine residues.

Function

Endothelin-3 is a potent vasoconstrictor, meaning it constricts the blood vessels, thereby increasing blood pressure. It also has other functions in the body, including the regulation of cell growth and cell differentiation, and the modulation of immune response.

Clinical significance

Mutations in the EDN3 gene can lead to certain medical conditions, such as Hirschsprung's disease, a disorder characterized by the absence of nerve cells in the muscles of the colon. Endothelin-3 is also implicated in the development of melanocytes, the cells responsible for skin pigmentation. Therefore, mutations in the EDN3 gene can also lead to Waardenburg syndrome, a genetic disorder that can cause hearing loss and changes in skin and hair color.

See also

• Endothelin
• Endothelin receptor
• Vasoconstriction
• Hirschsprung's disease
• Waardenburg syndrome

References

<references />