Endotelinski receptor
| Endotelinski receptor tip A | |
|---|---|
| Identifikatori | |
| Simbol | EDNRA |
| Entrez | 1909 |
| HUGO | 3179 |
| OMIM | 131243 |
| RefSeq | NM_001957 |
| UniProt | P25101 |
| Ostali podaci | |
| Lokus | Hromozom 4 q31.2 |
| Endotelinski receptor tip B | |
|---|---|
| Identifikatori | |
| Simbol | EDNRB |
| Alt. simboli | HSCR2, HSCR |
| Entrez | 1910 |
| HUGO | 3180 |
| OMIM | 131244 |
| RefSeq | NM_000115 |
| UniProt | P24530 |
| Ostali podaci | |
| Lokus | Hromozom 13 q22 |
Poznata su tri endotelinska receptora, ETA, ETB1 i ETB2. Oni su G protein-spregnuti receptori čija aktivacija dovodi do elevacije intracelularnog slobodnog kalcijuma.[1]
Klinički značaj[uredi | uredi izvor]
Ovaj receptor ima udela u ABCD sindromu[2] i nekim formama Vardenburgovog sindroma.[3]
Vidi još[uredi | uredi izvor]
Literatura[uredi | uredi izvor]
- ^ Davenport AP (2002). „International Union of Pharmacology. XXIX. Update on endothelin receptor nomenclature”. Pharmacol. Rev. 54 (2): 219—26. PMID 12037137. doi:10.1124/pr.54.2.219.
- ^ 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. PMID 11891690. doi:10.1002/ajmg.10172.
- ^ Read AP, Newton VE (1997). „Waardenburg syndrome”. J. Med. Genet. 34 (8): 656—65. PMC 1051028
. PMID 9279758. doi:10.1136/jmg.34.8.656.
Spoljašnje veze[uredi | uredi izvor]
- „Endothelin Receptors”. IUPHAR Database of Receptors and Ion Channels. International Union of Basic and Clinical Pharmacology. Архивирано из оригинала 04. 02. 2012. г.
- Endothelin+receptor на US National Library of Medicine Medical Subject Headings (MeSH)