endothelin-3; ET-3; preproendothelin-3; PPET3 (EDN3)
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Function
- endothelins are endothelium-derived vasoconstrictor peptides
Structure
belongs to the endothelin/sarafotoxin family
Compartment
Alternative splicing
named isoforms=2; long, short
Expression
- expressed in trophoblasts & placental stem villi vessels
- not expressed in cultured placental smooth muscle cells
- mRNA not expressed in endothelial cells
Pathology
- defects in EDN3 are the cause of Hirschsprung disease type 4
- defects in EDN3 are a cause of
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/P14138.html
- ↑ GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/EDN3
- ↑ NIEHS-SNPs http://egp.gs.washington.edu/data/edn3/
Database
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1908
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:1908
- OMIM: https://mirror.omim.org/entry/131242
- OMIM: https://mirror.omim.org/entry/209880
- OMIM: https://mirror.omim.org/entry/613265
- OMIM: https://mirror.omim.org/entry/613712
- UniProt: http://www.uniprot.org/uniprot/P14138.html