Endothelin receptor
From Self-sufficiency
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]
Clinical significance
It is associated with ABCD syndrome[2] and some forms of Waardenburg syndrome.[3]
See also
References
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External links
- "Endothelin Receptors". IUPHAR Database of Receptors and Ion Channels. International Union of Basic and Clinical Pharmacology.
- MeSH Endothelin+receptor
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- ↑ 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 Freely accessible. PMID 9279758.