Full name: endothelin 3

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: ET-3; PPET3; ls; tmgc48

Summary: This gene is a member of the endothelin family whose members encode proteins that act on G protein-coupled receptors. Endothelins are produced as large prepropolypeptide precursors that undergo a first cleavage by a subtilisin serine protease to form an inactive intermediate, which in turn is cleaved again by endothelin-converting enzyme 1 (ECE-1) to yield the active 21 amino acid peptide. This gene encodes a protein which is expressed in neural crest cells (NCC), binds to endothelin receptor b (Ednrb) and plays an essential role in the development of NCC-derived cell lineages including melanocytes and enteric neurons. Mutations in this gene are associated with terminal aganglionosis and white spotted coat in mice and Hirschsprung's disease and Waardenburg syndrome in humans. [provided by RefSeq, Apr 2013]

Expression: Broad expression in large intestine adult (RPKM 6.3), small intestine adult (RPKM 5.0) and 18 other tissues

Gene size: 23424bp

Exon count: 5