ENG (Entrez ID: 2022)

Entrez Gene ID 2022
Official Gene Symbol ENG (GeneCards)
Full name endoglin
Location 9q34.11
Other ids Vega : OTTHUMG00000020723
MIM : 131195
HGNC : HGNC:3349
Ensembl : ENSG00000106991
Other names END, HHT1, ORW1
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 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]

Variants

Found 11 variants in this database.