GDF5: a cytokine that is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. These cytokines are characterized by a polybasic proteolytic processing site which is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. Binds to bone morphogenetic protein receptors (BMPRs), a family of transmembrane serine/threonine kinases. BMPRs are involved in bone and cartilage formation. Chondrogenic signaling is mediated by the high-affinity receptor BMPR1B. Defects in GDF5 are the cause of acromesomelic chondrodysplasia Grebe type (AMDG), acromesomelic chondrodysplasia Hunter-Thompson type (AMDH), brachydactyly type C (BDC), Du Pan syndrome (DPS), symphalangism proximal syndrome (SYM1), multiple synostoses syndrome type 2 (SYNS2), and brachydactyly type A2 (BDA2). Genetic variations in GDF5 are associated with susceptibility to osteoarthritis type 5 (OS5). Belongs to the TGF-beta family.
Protein type: Secreted; Secreted, signal peptide
Cellular Component: extracellular space
Molecular Function: cytokine activity; protein binding; receptor binding; transforming growth factor beta receptor binding
Biological Process: BMP signaling pathway; cell development; chondrocyte differentiation; embryonic limb morphogenesis; forelimb morphogenesis; hindlimb morphogenesis; negative regulation of chondrocyte differentiation; negative regulation of epithelial cell proliferation; negative regulation of neuron apoptosis; positive regulation of BMP signaling pathway; positive regulation of chondrocyte differentiation; positive regulation of neuron differentiation; regulation of MAPKKK cascade; regulation of multicellular organism growth; SMAD protein nuclear translocation; transmembrane receptor protein serine/threonine kinase signaling pathway
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