Recettori delle endoteline

Recettore delle endoteline di tipo A
Gene
HUGOEDNRA
Entrez1909
LocusChr. 4 q31.2
Proteina
OMIM131243
UniProtP25101
Modifica dati su Wikidata · Manuale
Recettore delle endoteline di tipo B
Gene
HUGOEDNRB HSCR2, HSCR
Entrez1910
LocusChr. 13 q22
Proteina
OMIM131244
UniProtP24530
Modifica dati su Wikidata · Manuale

Ci sono almeno tre recettori delle endoteline, ETA, ETB1 and ETB2, sono tutti recettori accoppiati a proteine G (GPCR) la cui attivazione provoca un aumento del calcio libero a livello intracellulare.[1]

Importanza clinica

Mutazioni recettoriali sono associate alla sindrome ABCD e alla sindrome di Waardenburg.[2][3]

Note

  1. ^ AP. Davenport, International Union of Pharmacology. XXIX. Update on endothelin receptor nomenclature., in Pharmacol Rev, vol. 54, n. 2, Jun 2002, pp. 219-26, PMID 12037137.
  2. ^ JB. Verheij, J. Kunze; J. Osinga; AJ. van Essen; RM. Hofstra, ABCD syndrome is caused by a homozygous mutation in the EDNRB gene., in Am J Med Genet, vol. 108, n. 3, Mar 2002, pp. 223-5, PMID 11891690.
  3. ^ AP. Read, VE. Newton, Waardenburg syndrome., in J Med Genet, vol. 34, n. 8, Aug 1997, pp. 656-65, PMID 9279758.

Voci correlate

Collegamenti esterni

  • (EN) Endothelin Receptors, in IUPHAR Database of Receptors and Ion Channels, International Union of Basic and Clinical Pharmacology. URL consultato il 4 dicembre 2012 (archiviato dall'url originale il 4 febbraio 2012).

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