Aliases for EDN1 Gene
External Ids for EDN1 Gene
Previous GeneCards Identifiers for EDN1 Gene
This gene encodes a preproprotein that is proteolytically processed to generate a secreted peptide that belongs to the endothelin/sarafotoxin family. This peptide is a potent vasoconstrictor and its cognate receptors are therapeutic targets in the treatment of pulmonary arterial hypertension. Aberrant expression of this gene may promote tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
GeneCards Summary for EDN1 Gene
EDN1 (Endothelin 1) is a Protein Coding gene. Diseases associated with EDN1 include Question Mark Ears, Isolated and Auriculocondylar Syndrome 3. Among its related pathways are Development Endothelin-1/EDNRA signaling and Peptide ligand-binding receptors. GO annotations related to this gene include receptor binding and hormone activity. An important paralog of this gene is EDN2.
UniProtKB/Swiss-Prot for EDN1 Gene
Endothelins are endothelium-derived vasoconstrictor peptides.
The endothelin family consists of highly potent vasoconstrictive peptides. Three endogenous isoforms are known to exist - ET-1, ET-2 and ET-3. Due to their physiological role as vasoactive peptides, endothelins have been linked to certain cardiac, vascular and renal diseases; endothelin antagonists may therefore play an important role in the treatment of these conditions. Two distinct endothelin receptors have so far been cloned in mammals, classified as ETA and ETB receptors.