Gene:
endoglin (Osler-Rendu-Weber syndrome 1)
Gene ID:
195924
Symbol:
ENG
Species:
1000
Description:
Endoglin is a homodimeric transmembrane glycoprotein highly expressed by endothelial cells. It is a component of the transforming growth factor beta receptor complex as it binds TGFB1 and TGFB3 with high affinity. Mutations in the endoglin gene produce hereditary hemorrhagic telangiectasia.