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Genetics Home Reference: your guide to understanding genetic conditions
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ENG

Reviewed February 2007

What is the official name of the ENG gene?

The official name of this gene is “endoglin.”

ENG is the gene's official symbol. The ENG gene is also known by other names, listed below.

What is the normal function of the ENG gene?

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.

Does the ENG gene share characteristics with other genes?

The ENG gene belongs to a family of genes called CD (CD molecules).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the ENG gene related to health conditions?

hereditary hemorrhagic telangiectasia - caused by mutations in the ENG gene

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.

Where is the ENG gene located?

Cytogenetic Location: 9q34.11

Molecular Location on chromosome 9: base pairs 127,815,011 to 127,854,772

The ENG gene is located on the long (q) arm of chromosome 9 at position 34.11.

The ENG gene is located on the long (q) arm of chromosome 9 at position 34.11.

More precisely, the ENG gene is located from base pair 127,815,011 to base pair 127,854,772 on chromosome 9.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about ENG?

You and your healthcare professional may find the following resources about ENG helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the ENG gene or gene products?

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

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding ENG?

amino acid ; arteries ; gene ; growth factor ; hereditary ; precursor ; protein ; receptor ; syndrome ; telangiectasia ; veins

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Azuma H. Genetic and molecular pathogenesis of hereditary hemorrhagic telangiectasia. J Med Invest. 2000 Aug;47(3-4):81-90. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11019486?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/15084601?dopt=Abstract)
  • OMIM: ENDOGLIN (http://omim.org/entry/131195)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/15520401?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/15664386?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/15024723?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/15517393?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/2022)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/16179574?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/15375013?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/12667943?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: February 2007
Published: December 16, 2014