EDNRA gene

Last updated on: 26.07.2024

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DefinitionThis section has been translated automatically.

The EDNRA gene (EDNRA stands for: Endothelin Receptor Type A) is a protein-coding gene located on chromosome 4q31.22-q31.23. An important paralog of this gene is EDNRB. Alternative splicing leads to several transcript variants.

General informationThis section has been translated automatically.

This gene encodes the receptor for endothelin-1, a peptide that plays a role in severe and long-lasting vasoconstriction. This peptide is encoded by the endothelin-1 gene. Its receptor associates with guanine nucleotide-binding (G) proteins, and this coupling activates a phosphatidylinositol-calcium second messenger system. Polymorphisms in this gene have been associated with resistance to migraine headaches.

Systemic scleroderma: Circulating functional autoantibodies directed against the vascular angiotensin II receptor type 1 and the endothelin-1 receptor type A have been reported and are thought to play a pathogenic role (Avouac J et al. 2015; Cabral-Marques O et al. 2017). However, their exact involvement in pathogenesis remains to be determined, and it is also not yet clear whether they can be used as biomarkers or even represent therapeutic targets.

PathophysiologyThis section has been translated automatically.

The endothelin A receptor (ETA receptor) encoded by the EDNRA gene is a member of the endothelin receptor group of G-protein-coupled receptors, which also includes ETB. The receptor mediates its action by associating with G-proteins that activate a phosphatidylinositol calcium second messenger system. The order of binding affinity for ET-A is: ET1 > ET2 >> ET3. These receptors are mainly localized in the vascular smooth muscle, where they play a role in vasoconstriction and cell proliferation.

Diseases associated with EDNRA include mandibulofacial dysostosis with alopecia and migraine with or without aura 1.

LiteratureThis section has been translated automatically.

  1. Avouac J et al. (2015) Autoantibodies against endothelin 1 type a receptor are strong predictors of digital ulcers in systemic sclerosis. J Rheumatol 42: 1801-1807.
  2. Cabral-Marques O et al. (2017) Functional autoantibodies targeting G protein-coupled receptors in rheumatic diseases. Nat Rev Rheumatol13: 648-656.

Last updated on: 26.07.2024