Entrez gene ID | | 2022 |
Official gene symbol | | ENG |
Full name | | endoglin |
Aliases | | ,CD105,END,FLJ41744,HHT1,ORW,ORW1, |
Gene summary | | 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 TGFB1 and TGFB3 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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] |
Location | | Chromosome: 9 Locus: 9q33-q34.1 |
Gene position | | 130617047 - 130577291 Map Viewer |
Gene orientation | | minus |
Gene size | | 39757 bp |
Gene sequence |
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OMIM ID | | 131195 |
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