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EDN1 gene
URL of this page: https://medlineplus.gov/genetics/gene/edn1/

EDN1 gene

endothelin 1

Normal Function

The EDN1 gene provides instructions for making a protein called endothelin-1. Proteins in the endothelin family are produced in various cells and tissues, where they are involved in the development and function of blood vessels, the production of certain hormones, and cell growth and division (proliferation). 

Endothelin-1 is active in many tissues, including the blood vessels, the nervous system, and the kidneys. Endothelin-1 helps transmit signals from the outside of the cell to the inside of the cell. In this way, endothelin-1 can regulate many of the body’s functions. As an example, endothelin-1 helps control blood pressure by causing blood vessels to narrow (constrict) and by helping the kidneys regulate the removal of sodium.  

Endothelin-1 is part of a signaling pathway that helps cells called neural crest cells mature (differentiate) in the developing embryo. Neural crest cells migrate to different parts of the embryo and ultimately develop into many different types of cells. Endothelian-1 helps regulate the differentiation of the neural crest cells that form the first and second pharyngeal arches, which eventually become the bones and tissues of the head and face.  

Health Conditions Related to Genetic Changes

Auriculocondylar syndrome

Variants (also called mutations) in the EDN1 gene can cause auriculocondylar syndrome. This disorder affects the development of various facial features, primarily the ears and lower jaw (mandible). Many of the variants in the EDN1 gene that cause auriculocondylar syndrome result in the substitution of one protein building block (amino acid) for another in the endothelian-1 protein. These changes likely alter the structure of the protein and impair its function, leading to a disruption in cell signaling that alters the development of the structures that are formed from the first and second pharyngeal arches

More About This Health Condition

Other disorders

Variants in the EDN1 gene have also been associated with isolated question mark ears. Affected individuals have ears with a distinctive question mark shape that is caused by a split that separates the upper part of the ear from the earlobe. Affected individuals may also have other ear abnormalities, such as skin dimples on the surface of the ear or an absence of the outer rim of the ear. The condition is said to be isolated because it is not accompanied by signs or symptoms in other parts of the body. Though question mark ears do occur in people with auriculocondylar syndrome, individuals with isolated question mark ears do not have the other signs and symptoms seen in people with auriculocondylar syndrome.

Other Names for This Gene

  • ET1
  • PPET1
  • preproendothelin 1
  • QME

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

  • Dagamajalu S, Rex DAB, Gopalakrishnan L, Karthikkeyan G, Gurtoo S, Modi PK, Mohanty V, Mujeeburahiman M, Soman S, Raju R, Tiwari V, Prasad TSK. A network map of endothelin mediated signaling pathway. J Cell Commun Signal. 2021 Jun;15(2):277-282. doi: 10.1007/s12079-020-00581-4. Epub 2020 Sep 11. No abstract available. Citation on PubMed
  • Douma LG, Solocinski K, Masten SH, Barral DH, Barilovits SJ, Jeffers LA, Alder KD, Patel R, Wingo CS, Brown KD, Cain BD, Gumz ML. EDN1-AS, A Novel Long Non-coding RNA Regulating Endothelin-1 in Human Proximal Tubule Cells. Front Physiol. 2020 Mar 13;11:209. doi: 10.3389/fphys.2020.00209. eCollection 2020. Citation on PubMed
  • Gordon CT, Petit F, Kroisel PM, Jakobsen L, Zechi-Ceide RM, Oufadem M, Bole-Feysot C, Pruvost S, Masson C, Tores F, Hieu T, Nitschke P, Lindholm P, Pellerin P, Guion-Almeida ML, Kokitsu-Nakata NM, Vendramini-Pittoli S, Munnich A, Lyonnet S, Holder-Espinasse M, Amiel J. Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears. Am J Hum Genet. 2013 Dec 5;93(6):1118-25. doi: 10.1016/j.ajhg.2013.10.023. Epub 2013 Nov 21. Citation on PubMed
  • Kim KS, Arima Y, Kitazawa T, Nishiyama K, Asai R, Uchijima Y, Sato T, Levi G, Kitanaka S, Igarashi T, Kurihara Y, Kurihara H. Endothelin regulates neural crest deployment and fate to form great vessels through Dlx5/Dlx6-independent mechanisms. Mech Dev. 2013 Nov-Dec;130(11-12):553-66. doi: 10.1016/j.mod.2013.07.005. Epub 2013 Aug 8. Citation on PubMed
  • Li Q, Jiang Z, Zhang L, Cai S, Cai Z. Auriculocondylar syndrome: Pathogenesis, clinical manifestations and surgical therapies. J Formos Med Assoc. 2023 Sep;122(9):822-842. doi: 10.1016/j.jfma.2023.04.024. Epub 2023 May 17. Citation on PubMed
  • Romanelli Tavares VL, Zechi-Ceide RM, Bertola DR, Gordon CT, Ferreira SG, Hsia GS, Yamamoto GL, Ezquina SA, Kokitsu-Nakata NM, Vendramini-Pittoli S, Freitas RS, Souza J, Raposo-Amaral CA, Zatz M, Amiel J, Guion-Almeida ML, Passos-Bueno MR. Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome. Am J Med Genet A. 2017 Apr;173(4):938-945. doi: 10.1002/ajmg.a.38101. Citation on PubMed

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