免 疫 原：Recombinant human CD105
抗原表位：26-586/658 (C-6x His-Tag)
抗原细胞定位：Extracellular
SWISS：P17813
Gene ID ：2022
Human Gene ID：2022

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. [provided by RefSeq, May 2013]
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: TGFBR1 and/or TGFBR2. It is able to bind TGF-beta 1, and 3 efficiently and TGF-beta 2 less efficiently. Interacts with TCTEX1D4. Interacts with A
Subcellular Location：Membrane; Single-pass type I membrane protein.
Tissue Specificity：Endoglin is restricted to endothelial cells in all tissues except bone marrow.
DISEASE：Defects in ENG are the cause of hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300]; also known as Osler-Rendu-Weber syndrome 1 (ORW1). HHT1 is an autosomal dominant multisystemic vascular dysplasia, characterized by recurrent epistaxis, muco
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