Endothelin-3 (EDN3) ELISA Kit for Human

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. Altered expression of this gene is implicated in tumorigenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]

EDN3: Endothelins are endothelium-derived vasoconstrictor peptides. Defects in EDN3 are the cause of Hirschsprung disease type 4 (HSCR4); also known as aganglionic megacolon (MGC). A genetic disorder of neural crest development characterized by the absence of intramural ganglion cells in the hindgut; often resulting in intestinal obstruction. Defects in EDN3 are a cause of congenital central hypoventilation syndrome (CCHS); also known as congenital failure of autonomic control or Ondine curse. CCHS is a rare disorder characterized by abnormal control of respiration in the absence of neuromuscular or lung disease, or an identifiable brain stem lesion. A deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia. Defects in EDN3 are a cause of Waardenburg syndrome type 4 (WS4B); also known as Waardenburg-Shah syndrome. WS4B is characterized by the association of Waardenburg features (depigmentation and deafness) and the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease). Belongs to the endothelin/sarafotoxin family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Secreted, signal peptide; Secreted

Chromosomal Location of Human Ortholog: 20q13.2-q13.3

Cellular Component: cell; extracellular region; extracellular space; intracellular

Molecular Function: endothelin B receptor binding; hormone activity; receptor binding

Biological Process: artery smooth muscle contraction; blood circulation; cell surface receptor linked signal transduction; cell-cell signaling; cellular calcium ion homeostasis; inositol phosphate-mediated signaling; melanocyte differentiation; multicellular organismal development; neural crest cell migration; neuron differentiation; neutrophil chemotaxis; peptide hormone secretion; positive regulation of cell differentiation; positive regulation of cell proliferation; positive regulation of heart rate; positive regulation of hormone secretion; positive regulation of leukocyte chemotaxis; positive regulation of MAP kinase activity; positive regulation of mitosis; regulation of gene expression; regulation of pigmentation during development; regulation of systemic arterial blood pressure by endothelin; regulation of vasoconstriction; signal transduction; vasoconstriction; vein smooth muscle contraction

Disease: Central Hypoventilation Syndrome, Congenital; Hirschsprung Disease, Susceptibility To, 4; Waardenburg Syndrome, Type 4b