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 to the beta1 and beta3 peptides 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. This gene may also be involved in preeclampsia and several types of cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Aliases: ENG; END; HHT1; ORW1
Entrez GeneID: 2022
Swissprot : P17813
WB Predicted band size : 70.6kDa
Host/Isotype : Mouse IgG1
Species Reactivity : Human
Immunogen: Purified recombinant fragment of human CD105 (AA: extra 342-586) expressed in E. Coli.
