Recombinant Human Endoglin (ENG), Truncated

Uniprot Id

P17813

Target Species

Human

Target Name

ENG

Target Full Name

Endoglin

Target Function

Vascular endothelium glycoprotein that plays an important role in the regulation of angiogenesis. Required for normal structure and integrity of adult vasculature. Regulates the migration of vascular endothelial cells. Required for normal extraembryonic angiogenesis and for embryonic heart development. May regulate endothelial cell shape changes in response to blood flow, which drive vascular remodeling and establishment of normal vascular morphology during angiogenesis. May play a critical role in the binding of endothelial cells to integrins and/or other RGD receptors. Acts as TGF-beta coreceptor and is involved in the TGF-beta/BMP signaling cascade that ultimately leads to the activation of SMAD transcription factors. Required for GDF2/BMP9 signaling through SMAD1 in endothelial cells and modulates TGFB1 signaling through SMAD3.

Target Involvement

Telangiectasia, hereditary hemorrhagic, 1 (HHT1)

Target Subcellular Location

Cell membrane; Single-pass type I membrane protein.

Target Tissue Specificity

Detected on umbilical veil endothelial cells. Detected in placenta (at protein level). Detected on endothelial cells.

Target Synonyms

ENG; END; Endoglin; CD antigen CD105

Target Background

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.