Endoglin (ENG) Antibody – Rabbit Polyclonal

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]

ENG: Major glycoprotein of vascular endothelium. May play a critical role in the binding of endothelial cells to integrins and/or other RGD receptors. 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 ARRB2. Endoglin is restricted to endothelial cells in all tissues except bone marrow. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral; Motility/polarity/chemotaxis; Receptor, misc.

Chromosomal Location of Human Ortholog: 9q34.11

Cellular Component: external side of plasma membrane; extracellular space; focal adhesion; receptor complex

Molecular Function: activin binding; galactose binding; glycosaminoglycan binding; protein binding; protein homodimerization activity; transforming growth factor beta binding; transforming growth factor beta receptor, cytoplasmic mediator activity; transmembrane receptor activity; type II transforming growth factor beta receptor binding

Biological Process: artery morphogenesis; atrial cardiac muscle morphogenesis; BMP signaling pathway; branching involved in blood vessel morphogenesis; cell adhesion; central nervous system vasculogenesis; chronological cell aging; heart looping; negative regulation of cell migration; negative regulation of protein autophosphorylation; positive regulation of angiogenesis; positive regulation of BMP signaling pathway; positive regulation of collagen biosynthetic process; positive regulation of protein phosphorylation; positive regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-templated; regulation of transforming growth factor beta receptor signaling pathway; response to corticosteroid stimulus; response to drug; smooth muscle development; sprouting angiogenesis; vasculogenesis; venous blood vessel morphogenesis

Disease: Telangiectasia, Hereditary Hemorrhagic, Of Rendu, Osler, And Weber