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Overview
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Reacts with Endoglin, a 190 kDa homodimeric transmembrane glycoprotein composed ofdisulfide-linked subunits. The external domain binds TGF-beta1 and-beta3 isoforms with high affinity.Two different isoforms (L and S) of CD105 with capacity to bind TGF-beta have been characterized, which differ in the amino acid composition of their cytoplasmic tails. Mutations in the gene encodingendoglin have been linked to the human disease hereditary hemorrhagic telangiectasia type 1 (HHT1), a vascular disorder characterized by localized vascular dysplasia and a tendency towards arteriovenousmalformations. Mice expressing a single CD105 allele develop external signs of disease similar tohuman HHT1, supporting the haploinsufficiency model for HHT1. Mice lacking endoglin die fromdefective angiogenesis characterized by failure of vascular smooth muscle investment of embryonicblood vessels, suggesting a defect in vascular smooth muscle cell development.
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