Английская Википедия:Endothelin receptor type B

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Шаблон:Cs1 config Шаблон:Short description Шаблон:Infobox gene Endothelin receptor type B, (ET-B) is a protein that in humans is encoded by the EDNRB gene.[1]

Function

Endothelin receptor type B is a G protein-coupled receptor which activates a phosphatidylinositol-calcium second messenger system. Its ligand, endothelin, consists of a family of three potent vasoactive peptides: ET1, ET2, and ET3. A splice variant, named SVR, has been described; the sequence of the ETB-SVR receptor is identical to ETRB except for the intracellular C-terminal domain. While both splice variants bind ET1, they exhibit different responses upon binding which suggests that they may be functionally distinct.[2]

Regulation

In melanocytic cells the EDNRB gene is regulated by the microphthalmia-associated transcription factor. Mutations in either gene are links to Waardenburg syndrome.[3][4]

Clinical significance

The multigenic disorder, Hirschsprung disease type 2, is due to mutation in endothelin receptor type B gene.[5]

Animals

In horses, a mutation in the middle of the EDNRB gene, Ile118Lys, when homozygous, causes Lethal White Syndrome.[6] In this mutation, a mismatch in the DNA replication causes lysine to be made instead of isoleucine.[6] The resulting EDNRB protein is unable to fulfill its role in the development of the embryo, limiting the migration of the melanocyte and enteric neuron precursors. A single copy of the EDNRB mutation, the heterozygous state, produces an identifiable and completely benign spotted coat color called frame overo.[7]

Interactions

Endothelin receptor type B has been shown to interact with Caveolin 1.[8]

Ligands

Agonists
Antagonists
  • A-192,621
  • BQ-788
  • Bosentan (unselective ETA / ETB antagonist)

See also

References

Шаблон:Reflist

Further reading

Шаблон:Refbegin

Шаблон:Refend

External links

Шаблон:NLM content

Шаблон:G protein-coupled receptors

Партнерские ресурсы
Криптовалюты
Магазины
Хостинг
Разное

  1. ↑ Шаблон:Cite journal
  2. ↑ Шаблон:Cite web
  3. ↑ Шаблон:Cite journal
  4. ↑ Шаблон:Cite journal
  5. ↑ Шаблон:Cite journal
  6. ↑ 6,0 6,1 Шаблон:Cite journal
  7. ↑ Шаблон:Cite journal
  8. ↑ Шаблон:Cite journal
  9. ↑ Шаблон:Cite journal
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