• Gene Name：
• ENG

• Protein Name：
• Endoglin

• Human Gene Id：
• 2022

• Human Swiss Prot No：
• P17813

• Mouse Swiss Prot No：
• Q63961

• Specificity：
• Sample Type for Cell Culture Supernates, Cell lysates, Tissue Lysates, Serum, EDTA Plasma, Heparin Plasma

• Storage Stability：
• 2-8°C/6 months

• Other Name：
• ENG;END;Endoglin;CD antigen CD105

• Detection Method：
• Colorimetric

• Background：
• 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.,

• Function：
• negative regulation of transcription from RNA polymerase II promoter, chronological cell aging, angiogenesis, blood vessel development, patterning of blood vessels, vasculogenesis, response to hypoxia, morphogenesis of a branching structure, endothelial cell development, regulation of protein amino acid phosphorylation, negative regulation of protein amino acid phosphorylation, positive regulation of protein amino acid phosphorylation, regulation of endothelial cell proliferation, negative regulation of endothelial cell proliferation, vasculature development, heart looping, epithelial cell development, heart morphogenesis, circulatory system process, detection of oxygen, regulation of systemic arterial blood pressure, positive regulation of systemic arterial blood pressure, regulation of transcription, DNA-dependent, regulation of transcription from RNA polymerase II promoter, cell motio

• Subcellular Location：
• Cell membrane ; Single-pass type I membrane protein .

• Expression：
• Detected on umbilical veil endothelial cells (PubMed:10625079). Detected in placenta (at protein level) (PubMed:1692830). Detected on endothelial cells (PubMed:1692830).

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