The EDN1 gene (EDN1 stands for: Endothelin 1) is a protein-coding gene located on chromosome 6p24.1. Alternative splicing leads to several transcript variants. An important paralog of this gene is EDN2.
EDN1 gene
DefinitionThis section has been translated automatically.
General informationThis section has been translated automatically.
The EDN1 gene encodes a preprotein that is proteolytically processed to produce a secreted peptide belonging to the endothelin/sarafotoxin family. This peptide is a potent vasoconstrictor. Its associated receptors are therapeutic targets in the treatment of pulmonary arterial hypertension. Impaired expression of this gene can promote tumor development.
PathophysiologyThis section has been translated automatically.
The endothelin family consists of highly potent vasoconstrictive peptides. Three endogenous isoforms are known - ET-1, ET-2 and ET-3. Due to their physiological role as vasoactive peptides, endothelins are associated with certain cardiovascular and renal diseases; endothelin antagonists could therefore play an important role in the treatment of these diseases.
Psoriasis: TNFα, ET-1 and α1AGP in serum appear to be useful biomarkers of metabolic syndrome in psoriatic patients. However, these cytokines are not associated with the severity or duration of psoriasis (Nowowiejska J et al. 2023).
Clinical pictureThis section has been translated automatically.
One of the diseases associated with EDN1 is auriculocondylar syndrome 3.
LiteratureThis section has been translated automatically.
- Bousette N et al. (2003) Endothelin-1 in atherosclerosis and other vasculopathies. Can J Physiol Pharmacol 81:578-587.
- Nowowiejska J et al. (2023) Tumor Necrosis Factor (TNF) α, Endothelin (ET) 1 and α1-Acid Glycoprotein (AGP) as Potential Urine and Serum Markers of Metabolic Complications in Psoriasis? Dermatol Ther (Heidelberg) 13:2217-2227.