Endothelin receptor 5827346 219489030 2008-06-15T13:51:39Z Alaibot 1324179 Robot: sorting stub (based on existing categorisation) {{protein |Name=[[endothelin receptor type A]] |caption= |image= |width= |HGNCid=3179 |Symbol=EDNRA |AltSymbols= |EntrezGene=1909 |OMIM=131243 |RefSeq=NM_001957 |UniProt=P25101 |PDB= |ECnumber= |Chromosome=4 |Arm=q |Band=31.2 |LocusSupplementaryData= }} {{protein |Name=[[endothelin receptor type B]] |caption= |image= |width= |HGNCid=3180 |Symbol=EDNRB |AltSymbols=HSCR2, HSCR |EntrezGene=1910 |OMIM=131244 |RefSeq=NM_000115 |UniProt=P24530 |PDB= |ECnumber= |Chromosome=13 |Arm=q |Band=22 |LocusSupplementaryData= }} There are at least three known '''[[endothelin]] receptors''', ET<sub>A</sub>, ET<sub>B1</sub> and ET<sub>B2</sub>, all of which are [[G protein-coupled receptor]]s whose activation result in elevation of intracellular-free [[calcium]].<ref name="pmid12037137">{{cite journal | author = Davenport AP | title = International Union of Pharmacology. XXIX. Update on endothelin receptor nomenclature | journal = Pharmacol. Rev. | volume = 54 | issue = 2 | pages = 219–26 | year = 2002 | pmid = 12037137 | doi = 10.1124/pr.54.2.219 | issn = }}</ref> ==Clinical significance== It is associated with [[ABCD syndrome]]<ref name="pmid11891690">{{cite journal | author = Verheij JB, Kunze J, Osinga J, van Essen AJ, Hofstra RM | title = ABCD syndrome is caused by a homozygous mutation in the EDNRB gene | journal = Am. J. Med. Genet. | volume = 108 | issue = 3 | pages = 223–5 | year = 2002 | pmid = 11891690 | doi = 10.1002/ajmg.10172 | issn = }}</ref> and some forms of [[Waardenburg syndrome]].<ref name="pmid9279758">{{cite journal | author = Read AP, Newton VE | title = Waardenburg syndrome | journal = J. Med. Genet. | volume = 34 | issue = 8 | pages = 656–65 | year = 1997 | pmid = 9279758 | doi = | issn = }}</ref> ==See also== * [[Endothelin receptor antagonist]] ==References== {{Reflist}} ==External links== *[http://www.iuphar-db.org/GPCR/ChapterMenuForward?chapterID=1283 IUPHAR GPCR Database - Endothelin Receptors] *{{MeshName|Endothelin+receptor}} {{transmembranereceptor-stub}} {{G protein-coupled receptors}} [[Category:G protein coupled receptors]]