Reviewed February 2007
What is the official name of the ENG gene?
The official name of this gene is “endoglin (Osler-Rendu-Weber syndrome 1).”
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? in the Handbook.
How are changes in the ENG gene related to health conditions?
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hereditary hemorrhagic telangiectasia - caused by mutations in the ENG gene
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Dozens of mutations in the ENG gene have been found to cause hereditary hemorrhagic telangiectasia type 1. Many ENG 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: 9q33-q34.1
Molecular Location on chromosome 9: base pairs 129,617,114 to 129,656,804
The ENG gene is located on the long (q) arm of chromosome 9 between positions 33 and 34.1.
More precisely, the ENG gene is located from base pair 129,617,114 to base pair 129,656,804 on chromosome 9.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about ENG?
You and your healthcare professional may find the following resources about ENG helpful.
- Gene Tests
- DNA tests ordered by healthcare professionals
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature
- OMIM - Genetic disorder catalog
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What other names do people use for the ENG gene or gene products?
- CD105
- EGLN_HUMAN
- END
- endoglin precursor
- HHT1
- ORW
- ORW1
- Transforming Growth Factor P Receptor III
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding ENG?
acids ;
amino acid ;
artery ;
cell ;
gene ;
growth factor ;
mutation ;
protein ;
receptor ;
sign ;
symptom ;
syndrome ;
telangiectasia ;
vein
You may find definitions for these and many other terms in the Genetics Home Reference
Glossary.
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? in the Handbook.
