EDNRB : endothelin receptor type B

Description

The EDNRB (endothelin receptor type B) is a protein-coding gene located on chromosome 13.

The EDNRB gene provides instructions for making a protein called endothelin receptor type B, which is located on the surface of cells. This protein functions as a signaling mechanism, relaying information from outside the cell to its interior. The receptor interacts with endothelins to regulate several crucial biological processes, including blood vessel development and function, hormone production, and cell growth and division (proliferation). Endothelin 3, produced from the EDN3 gene, is one of the proteins that interacts with endothelin receptor type B. During embryonic development, endothelin 3 and endothelin receptor type B are vital for neural crest cells, which migrate from the developing spinal cord to specific regions in the embryo. These cells give rise to many different types of cells, and endothelin 3 and endothelin receptor type B are essential for the formation of nerves in the intestine (enteric nerves) and the production of specialized cells called melanocytes. Melanocytes produce melanin, a pigment responsible for skin, hair, and eye color. Melanin also plays a role in the normal function of the inner ear.

The EDNRB protein acts as a receptor for endothelin 1, 2, and 3. It triggers a signaling cascade by binding to G proteins, which in turn activate the phosphatidylinositol-calcium second messenger system.

EDNRB is also known as ABCDS, ET-B, ET-BR, ETB, ETB1, ETBR, ETRB, HSCR, HSCR2, WS4A.

Associated Diseases

• Waardenburg-Shah syndrome
• Hirschsprung disease, susceptibility to, 2
• ABCD syndrome
• Hirschsprung disease
• Waardenburg syndrome type 2
• Waardenburg syndrome