該基因編碼一種同二聚體跨膜蛋白，是血管內皮的主要糖蛋白。該蛋白是轉化生長因子β受體復合物的一個組成部分，它與beta1和beta3肽具有高親和力。該基因突變導致遺傳性出血性毛細血管擴張癥，也稱為Osler-Rendu-Weber綜合征1，常染色體顯性遺傳性多系統血管發育不良這個基因也可能與子癇前期和幾種癌癥有關另外，已經發現該基因編碼不同亞型的剪接轉錄變體[由RefSeq提供，2013年5月]
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]