NCBI Description of ENG
|This gene encodes a homodimeric transmembrane protein which is a major glycoprotein of the vascular endothelium. This protein is a component of the transforming growth factor beta receptor complex and it binds TGFB1 and TGFB3 with high affinity. Mutations in this gene cause hereditary hemorrhagic telangiectasia, also known as Osler-Rendu-Weber syndrome 1, an autosomal dominant multisystemic vascular dysplasia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.|
Community Annotation of ENG Add / Edit ENG: Annotations
No community annotations yet for ENG.
• "Mouse over" a mutation to see details.
Click on a tumor type to see its full list of significant genes.