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EDN1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

EDN1 gene

The EDN1 gene provides instructions for making the endothelin-1 protein, which is essential for blood vessel function, hormone production, and the development of facial structures.

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. Endothelin-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 endothelin-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.

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.

Other Names for This Gene

  • ET1
  • PPET1
  • preproendothelin 1
  • QME

Frequently Asked Questions

Parents and clinicians often notice distinct facial features shortly after birth. Key signs include microtia, which is underdevelopment or absence of the outer ear, and hypoplasia of the mandible (lower jaw), which can appear small or recessed. These features result from the disruption of neural crest cell migration during embryonic development. In some cases, there may also be hearing loss or difficulty with feeding and breathing due to the structural changes in the face and airway. Early assessment by a pediatrician or geneticist is crucial to identify these traits and plan appropriate interventions.
The long-term prognosis varies depending on the severity of the facial deformities and any associated hearing or airway issues. Many individuals have normal intelligence and life expectancy. Treatment is multidisciplinary and often begins in infancy. This may include hearing aids or cochlear implants for hearing loss, speech therapy to address any feeding or articulation difficulties, and surgical reconstruction of the ears and jaw to improve function and appearance. Regular follow-up with a team of specialists, including geneticists, otolaryngologists, and plastic surgeons, is essential for managing the condition.
While the EDN1 gene is responsible for producing endothelin-1, a potent vasoconstrictor that regulates blood pressure, the specific variants causing auriculocondylar syndrome typically affect the protein's role in facial development rather than its vascular function. Therefore, patients with this syndrome do not usually present with the high blood pressure or vascular issues seen in other endothelin-related disorders. However, routine monitoring of blood pressure is still part of standard pediatric care to ensure overall cardiovascular health, especially if other systemic features are present.
The EDN1 gene is unique because it encodes endothelin-1, a signaling molecule that guides the migration and differentiation of neural crest cells. These cells are the precursors to the bones and tissues of the head and face, specifically the first and second pharyngeal arches. Mutations in EDN1 disrupt this specific signaling pathway, leading to defects in the structures derived from these arches, such as the ears and mandible. Other genes involved in facial development may affect different cell types or pathways, resulting in different patterns of facial anomalies. Understanding this specific mechanism helps clinicians predict which structures are most likely to be affected.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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