Description
Product Characteristics:
Endothelins are vasoactive proteins derived form the endothelium The active form of this protein is a 21aa peptide processed from the precursor. The active peptide binds endothelin receptor type B (EDNRB). This interaction EDNRB regulates the development of neural crest-derived cell lineages, such as melanocytes and enteric neurons. Mutations in Endothelin 3 and EDNRB have been associated with Hirschsprung disease (HSCR) and Waardenburg syndrome (WS), which are congenital disorders involving neural crest-derived cells.
Subcellular location: Secreted
Synonyms: ET 3, ET3, ET-3, PPET3, Preproendothelin 3, Preproendothelin3, Preproendothelin-3, Endothelin3, Endothelin-3, Endothelin 3, EDN3_HUMAN.
Target Information: The protein encoded by this gene is a member of the endothelin family. Endothelins are endothelium-derived vasoactive peptides involved in a variety of biological functions. The active form of this protein is a 21 amino acid peptide processed from the precursor protein. The active peptide is a ligand for endothelin receptor type B (EDNRB). The interaction of this endothelin with EDNRB is essential for development of neural crest-derived cell lineages, such as melanocytes and enteric neurons. Mutations in this gene and EDNRB have been associated with Hirschsprung disease (HSCR) and Waardenburg syndrome (WS), which are congenital disorders involving neural crest-derived cells. Four alternatively spliced transcript variants encoding three distinct isoforms have been observed. [provided by RefSeq, Jul 2008]