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.
Applications:Suitable for use in Western Blot.
Other applications not tested.
Recommended Dilution:Optimal dilutions to be determined by the researcher.