ENG

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.

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