ENG antibody, MGC137842 antibody, DKFZp469D0419 antibody, END antibody, HHT1 antibody, ORW1 antibody, AI528660 antibody, AI662476 antibody, CD105 antibody, S-endoglin antibody, endoglin antibody, ENG antibody, Eng antibody
背景
FUNCTION: Major glycoprotein of vascular endothelium. May play a critical role in the binding of endothelial cells to integrins and/or other RGD receptors.
DISEASE: Defects in ENG are the cause of hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300], also known as Rendu-Osler-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.