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Beschreibung

Growth/differentiation factor 2 (UniPort: Q9UK05, also known as GDF-2, Bone morphogenetic protein 9, BMP-9) is encoded by the GDF2 (also known as BMP9) gene (Gene ID: 2658) in human. BMP-9 is a member of the TGF-beta family that forms a signaling complex with two type 1 and two type II receptors. It is synthesized with a signal peptide of (aa 1-22) and a propeptide (aa 22-319). The signal peptide is cleaved in the mature protein. The propeptide of BMP-9 does not interfere with the biological activity of BMP-9 and is believed to remain associated with the mature peptide. BMP9 is constitutively secreted from the liver in an active form into the circulation. BMP-9 signals through high affinity activing receptor-like kinase 1 (ALK1) in endothelial cells and maintains endothelial homeostasis. It is also considered as a potent osteogenic signaling factor in mesenchymal stem cells. BMP-9 is also known to induce an increase in collagen, fibronectin, and connective tissue growth factor expression associated with Smad 1/5/8, Smad 2/3, and Erk1/2 activation. It is also reported to promote the acquisition of the cholinergic phenotype in basal forebrain cholinergic neurons during development and protects these neurons. Defects in BMP9 gene are known to cause Telangiectasia, hereditary hemorrhagic disease that leads to vascular dysplasia leading to dilation of permanent blood vessels and arteriovenous malformations of skin, mucosa, and viscera and causes recurrent epistaxis and gastro-intestinal hemorrhage (Ref.: Wei, Z et al. (2014). J. Biol. Chem. 289 (45), 31150 31159, Munoz-Felix, JM et al. (2016). Cell Signal 28(9): 1252-1261).