Gene Symbol | EDN1 |
Entrez Gene ID | 1906 |
Full Name | endothelin 1 |
Synonyms | ARCND3,ET1,HDLCQ7,PPET1,QME |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Auriculocondylar syndrome 3, 615706 (3); Question mark ears, isolated, 612798 (3); {High density lipoprotein cholesterol level QTL 7} (3) |