Gene ENG

Also known as

CD105, HHT1, ORW, ORW1, endoglin

Overview

ENG (Endoglin) encodes a transmembrane glycoprotein that serves as an accessory receptor for TGF-beta signaling on endothelial cells. Endoglin is essential for proper blood vessel development and maintenance, particularly in regulating angiogenesis and vascular remodeling.

Mutations in ENG cause hereditary hemorrhagic telangiectasia type 1 (HHT1, also called Osler-Weber-Rendu syndrome), characterized by abnormal blood vessel formation leading to telangiectases (small vascular malformations) in skin and mucous membranes, and arteriovenous malformations (AVMs) in the lungs, liver, and brain. Nosebleeds are often the first symptom, and untreated pulmonary AVMs can cause stroke and brain abscess.

Understanding your ENG genetic status is critical for individuals with unexplained recurrent nosebleeds, telangiectases, or family history of HHT. Early diagnosis enables screening for and treatment of visceral AVMs before complications occur, significantly reducing morbidity and mortality from this condition.

NutraHacker Raw DNA Analysis Products that include this gene

• Whole Genome Sequencing Critical Genetics Report

Upload raw DNA data to get your very own analysis of gene ENG through your personalized DNA reports.