Disease:Defects in ENG are the cause of hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300 , 108010]; also known as Osler-Rendu-Weber syndrome 1 (ORW1) . HHT1 is an autosomal dominant multisystemic vascular dysplasia , characterized by recurrent epistaxis , muco-cutaneous telangiectases , gastro-intestinal hemorrhage , and pulmonary (PAVM) , cerebral (CAVM) and hepatic arteriovenous malformations; all secondary manifestations of the underlying vascular dysplasia. Although the first symptom of HHT1 in children is generally nose bleed , there is an important clinical heterogeneity. ,Function:Major glycoprotein of vascular endothelium. May play a critical role in the binding of endothelial cells to integrins and/or other RGD receptors. ,subunit:Homodimer that forms an heteromeric complex with the signaling receptors for transforming growth factor-beta: TGF-beta receptors I and/or II. It is able to bind TGF-beta 1 , and 3 efficiently and TGF-beta 2 less efficiently. Interacts with TCTEX1D4. ,tissue specificity:Endoglin is restricted to endothelial cells in all tissues except bone marrow. ,
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