Description
Product Characteristics: Endoglin is an endothelial homodimeric membrane antigen containing the tripeptide sequence RGD, which is a recognition motif for adhesion receptors of the integrin family. It has been proposed that endoglin is a TGF-b receptor. Endoglin is a glycoprotein present on endothelial cells of capillaries, arterioles and venules in a variety of tissues and at low levels on acute lymphoblastic and myelocytic leukaemia cells.
Target Information: 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. [provided by RefSeq, Sep 2008]