Endothelin receptor

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endothelin receptor type A
Symbol EDNRA
Entrez 1909
HUGO 3179
OMIM 131243
RefSeq NM_001957
UniProt P25101
Other data
Locus Chr. 4 q31.2
endothelin receptor type B
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


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External links

  1. 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. 
  2. 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. 
  3. Read AP, Newton VE (1997). "Waardenburg syndrome". J. Med. Genet. 34 (8): 656–65. doi:10.1136/jmg.34.8.656. PMC 1051028Freely accessible. PMID 9279758.