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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. Note: This description may include information from UniProtKB.
Protein type: Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 20q13.32
Cellular Component: 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 signaling pathway; cell-cell signaling; cellular calcium ion homeostasis; inositol phosphate-mediated signaling; melanocyte differentiation; multicellular organism 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 mitotic nuclear division; regulation of developmental pigmentation; regulation of gene expression; 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
Reference #:  P14138 (UniProtKB)
Alt. Names/Synonyms: EDN3; endothelin 3; Endothelin-3; ET-3; ET3; HSCR4; MGC15067; MGC61498; PPET3; Preproendothelin-3; truncated endothelin 3; WS4B
Gene Symbols: EDN3
Molecular weight: 25,454 Da
Basal Isoelectric point: 6.24  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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