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

ENG gene

endoglin
From Genetics Home Reference. Learn more

Normal Function

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

Health Conditions Related to Genetic Changes

Hereditary hemorrhagic telangiectasia

Dozens of mutations in the ENG gene have been found to cause hereditary hemorrhagic telangiectasia type 1. Many ENG gene mutations substitute one protein building block (amino acid) for another amino acid in the endoglin protein, which impairs the protein's function. Other mutations prevent production of the endoglin protein or result in an abnormally small protein that cannot function. The shortage of functional endoglin appears to interfere with the development of boundaries between arteries and veins, resulting in the signs and symptoms of hereditary hemorrhagic telangiectasia type 1.

More About This Health Condition

Pulmonary arterial hypertension

MedlinePlus Genetics provides information about Pulmonary arterial hypertension

More About This Health Condition

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

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Research Resources

References

  • Azuma H. Genetic and molecular pathogenesis of hereditary hemorrhagic telangiectasia. J Med Invest. 2000 Aug;47(3-4):81-90. Review. Citation on PubMed
  • Conley BA, Koleva R, Smith JD, Kacer D, Zhang D, Bernabéu C, Vary CP. Endoglin controls cell migration and composition of focal adhesions: function of the cytosolic domain. J Biol Chem. 2004 Jun 25;279(26):27440-9. Epub 2004 Apr 14. Citation on PubMed
  • Karabegovic A, Shinawi M, Cymerman U, Letarte M. No live individual homozygous for a novel endoglin mutation was found in a consanguineous Arab family with hereditary haemorrhagic telangiectasia. J Med Genet. 2004 Nov;41(11):e119. Citation on PubMed or Free article on PubMed Central
  • Lebrin F, Deckers M, Bertolino P, Ten Dijke P. TGF-beta receptor function in the endothelium. Cardiovasc Res. 2005 Feb 15;65(3):599-608. Review. Citation on PubMed
  • Lesca G, Plauchu H, Coulet F, Lefebvre S, Plessis G, Odent S, Rivière S, Leheup B, Goizet C, Carette MF, Cordier JF, Pinson S, Soubrier F, Calender A, Giraud S; French Rendu-Osler Network. Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. Hum Mutat. 2004 Apr;23(4):289-99. Citation on PubMed
  • Letteboer TG, Zewald RA, Kamping EJ, de Haas G, Mager JJ, Snijder RJ, Lindhout D, Hennekam FA, Westermann CJ, Ploos van Amstel JK. Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients. Hum Genet. 2005 Jan;116(1-2):8-16. Epub 2004 Oct 23. Citation on PubMed
  • Pawlikowska L, Tran MN, Achrol AS, Ha C, Burchard E, Choudhry S, Zaroff J, Lawton MT, Castro R, McCulloch CE, Marchuk D, Kwok PY, Young WL; UCSF BAVM Study Project. Polymorphisms in transforming growth factor-beta-related genes ALK1 and ENG are associated with sporadic brain arteriovenous malformations. Stroke. 2005 Oct;36(10):2278-80. Epub 2005 Sep 22. Citation on PubMed
  • Sanz-Rodriguez F, Fernandez-L A, Zarrabeitia R, Perez-Molino A, Ramírez JR, Coto E, Bernabeu C, Botella LM. Mutation analysis in Spanish patients with hereditary hemorrhagic telangiectasia: deficient endoglin up-regulation in activated monocytes. Clin Chem. 2004 Nov;50(11):2003-11. Epub 2004 Sep 16. Citation on PubMed
  • van den Driesche S, Mummery CL, Westermann CJ. Hereditary hemorrhagic telangiectasia: an update on transforming growth factor beta signaling in vasculogenesis and angiogenesis. Cardiovasc Res. 2003 Apr 1;58(1):20-31. Review. Citation on PubMed
From Genetics Home Reference

Genetics Home Reference has merged with MedlinePlus. Genetics Home Reference content now can be found in the "Genetics" section of MedlinePlus. Learn more

The resources on this site should not be used as a substitute for professional medical care or advice. Users with questions about a personal health condition should consult with a qualified healthcare professional.