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

ENG gene

The ENG gene provides instructions for making endoglin, a protein critical for the development and specialization of blood vessels.

Normal Function

The ENG gene provides instructions for making a protein called endoglin. This protein is found on the surface of cells, particularly in the lining of developing arteries. It forms a complex with growth factors and other proteins to assist in the development of blood vessels, specifically in the specialization of new vessels into arteries or veins.

Health Conditions Related to Genetic Changes

Hereditary hemorrhagic telangiectasia

Dozens of mutations in the ENG gene cause hereditary hemorrhagic telangiectasia type 1. Many of these mutations substitute one amino acid for another, impairing the protein's function, while others prevent the production of endoglin or result in an abnormally small, non-functional protein.

The resulting shortage of functional endoglin interferes with the development of boundaries between arteries and veins, leading to the signs and symptoms of the disorder.

Pulmonary arterial hypertension

The ENG gene is also associated with pulmonary arterial hypertension.

Other Names for This Gene

  • CD105
  • EGLN_HUMAN
  • END
  • endoglin (Osler-Rendu-Weber syndrome 1)
  • endoglin precursor
  • HHT1
  • ORW
  • ORW1
  • Transforming Growth Factor P Receptor III

Frequently Asked Questions

nswer: HHT1 primarily affects blood vessels, leading to fragile vessels that bleed easily. Common symptoms include recurrent nosebleeds, small red spots on the skin and mucous membranes (telangiectasias), and abnormal connections between arteries and veins (arteriovenous malformations or AVMs) in organs like the lungs, brain, liver, or gastrointestinal tract, which can cause internal bleeding or other complications.
nswer: Treatment focuses on managing symptoms and preventing complications. This can include iron supplementation for anemia due to chronic bleeding, local treatments for nosebleeds (e.g., humidification, cautery), and embolization or surgery for AVMs in critical organs like the lungs or brain to prevent rupture or other severe issues. Regular monitoring is also crucial.
nswer: The ENG gene is involved in blood vessel development and function. Mutations can lead to abnormal remodeling of the pulmonary arteries, causing them to narrow and stiffen. This increases blood pressure in the arteries leading to the lungs, resulting in pulmonary arterial hypertension. This can occur independently or in conjunction with HHT1.
nswer: Diagnosis often involves a clinical evaluation based on specific criteria (recurrent nosebleeds, telangiectasias, family history, and AVMs). Genetic testing for ENG gene mutations can confirm the diagnosis, particularly in individuals with a family history or atypical presentations. Imaging studies are also used to detect AVMs in various organs.
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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