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The GDF5 gene is involved in skeletal development through bone and cartilage formation. This gene encodes for a 501 amino acid long, 55 kDA protein that is part of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily which is known to regulate cell growth and differentiation in embryotic and adult tissues. The GDF5 gene is involved in paxillian interactions, mitochondrial apoptosis, the cytokine-cytokine receptor interaction, and the TGF-beta signaling pathway through interacting with other genes such as BMPR1A, BMPR1B, BMPR2, HTRA1, and CHRDL2. The GDF5 gene has been associated to chondrodysplasia, synostosis, periostitis, short stature, cushing's symphalangism, brachydactyly and ankylosis.