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.
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.
Genetics Home Reference provides information about pulmonary arterial hypertension.
- endoglin (Osler-Rendu-Weber syndrome 1)
- endoglin precursor
- Transforming Growth Factor P Receptor III