Human Endoglin/CD105, C-His Tag (ECD) Protein (HA211006)

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by vascular abnormalities such as dilated vessels, hemorrhages, liver and lung congestion, and brain or heart ischemia. Mutations in two genes, Endoglin (also designated CD105) and ALK-1 (Activin receptor-like kinase 1, also designated TGFβ superfamily RI), are responsible for HHT. Endoglin is mutated in HHT1, and ALK-1 is mutated in HHT2, both of which are thought to be caused by haploinsufficiency. Endoglin and ALK-1 are type III and type I members of the TGFβ receptor superfamily, respectively, that are expressed on vascular endothelial cells. Endoglin can only bind ligands of the TGFβ superfamily via association with the respective ligand binding receptors for TGFβ1, TGFβ3, Activin-A, BMP-2 and BMP-7.