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Official Full Name: growth differentiation factor 2
Also known as: BMP9; HHT5; BMP-9
This gene encodes a secreted ligand for the tgf-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-β receptors, leading to the recruitment and activation of SMAD family transcription factors, which regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of a disulfide-linked homodimer. This protein regulates cartilage and skeletal development, angiogenesis, and differentiation of cholinergic CNS neurons. Mutations in this gene are associated with hereditary hemorrhagic telangiectasia.