Endothelin receptor
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| endothelin receptor type A | |
|---|---|
| Identifiers | |
| Symbol | EDNRA |
| Entrez | 1909 |
| HUGO | 3179 |
| OMIM | 131243 |
| RefSeq | NM_001957 |
| UniProt | P25101 |
| Other data | |
| Locus | Chr. 4 q31.2 |
| endothelin receptor type B | |
|---|---|
| Identifiers | |
| Symbol | EDNRB |
| Alt. symbols | HSCR2, HSCR |
| Entrez | 1910 |
| HUGO | 3180 |
| OMIM | 131244 |
| RefSeq | NM_000115 |
| UniProt | P24530 |
| Other data | |
| Locus | Chr. 13 q22 |
There are at least three known endothelin receptors, ETA, ETB1 and ETB2, all of which are G protein-coupled receptors whose activation result in elevation of intracellular-free calcium.[1]
Contents |
[edit] Clinical significance
It is associated with ABCD syndrome[2] and some forms of Waardenburg syndrome.[3]
[edit] See also
[edit] References
- ^ Davenport AP (2002). "International Union of Pharmacology. XXIX. Update on endothelin receptor nomenclature". Pharmacol. Rev. 54 (2): 219–26. doi:10.1124/pr.54.2.219. PMID 12037137.
- ^ Verheij JB, Kunze J, Osinga J, van Essen AJ, Hofstra RM (2002). "ABCD syndrome is caused by a homozygous mutation in the EDNRB gene". Am. J. Med. Genet. 108 (3): 223–5. doi:10.1002/ajmg.10172. PMID 11891690.
- ^ Read AP, Newton VE (1997). "Waardenburg syndrome". J. Med. Genet. 34 (8): 656–65. doi:10.1136/jmg.34.8.656. PMC 1051028. PMID 9279758. //www.ncbi.nlm.nih.gov/pmc/articles/PMC1051028/.
[edit] External links
- "Endothelin Receptors". IUPHAR Database of Receptors and Ion Channels. International Union of Basic and Clinical Pharmacology. http://www.iuphar-db.org/GPCR/ChapterMenuForward?chapterID=1283.
- Endothelin+receptor at the US National Library of Medicine Medical Subject Headings (MeSH)
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