(Gene 20) 22

From NCBI (National Center for Biotechnology Information)

Gene ID: 2022
Official symbol: ENG
Official full name: endoglin
Gene Type:  protein coding
Organism:  Homo Sapiens
Location:  9q33-q34.1

Sequence :

Chromosome: 9; NC_000009.11 (130577291..130617047, complement)

Genomic Context describing neighboring genes.11

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, Sep 2008]“

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