ENG antibody, MGC137842 antibody, DKFZp469D0419 antibody, END antibody, HHT1 antibody, ORW1 antibody, AI528660 antibody, AI662476 antibody, CD105 antibody, S-endoglin antibody, endoglin antibody, ENG antibody, Eng antibody
背景
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.Synonyms: END, ENG, HHT1, ORW, ORW1