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| Identifiers | |
| Symbol | EDNRA |
| Entrez | 1909 |
| HUGO | 3179 |
| OMIM | 131243 |
| RefSeq | NM_001957 |
| UniProt | P25101 |
| Other data | |
| Locus | Chr. 4 q31.2 |
| 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 |
Clinical significance
It is associated with ABCD syndrome[2] and some forms of Waardenburg syndrome.[3]
See also
References
- ^ Davenport AP (2002). "International Union of Pharmacology. XXIX. Update on endothelin receptor nomenclature". Pharmacol. Rev. 54 (2): 219–26. doi:. 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:. PMID 11891690.
- ^ Read AP, Newton VE (1997). "Waardenburg syndrome". J. Med. Genet. 34 (8): 656–65. PMID 9279758.
External links
Wikipedia content modification information:
- This page was last modified on 15 June 2008, at 13:51.
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