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GDF-5 is expressed in long bones during embryonic development and postnatally in articular cartilage. Mutations in the GDF-5 gene have been implicated in Hunter-Thompson type dwarfism and in Grebe Syndrome, which is characterized by short stature, extra digits, and short and deformed extremities. The mature and functional form of GDF-5 is a homodimer of two 120 amino-acid polypeptide chain (monomers) linked by a single disulfide bond. Each GDF-5 monomer is expressed as the C-terminal part of a precursor polypeptide, which also contains a 27 amino acid signal peptide and a 354 amino acid propeptide. This precursor undergoes intracellular dimerization, and upon secretion it is processed by a furin-type protease.
BDA1C; Bmp14; BMP-14; Bone morphogenetic protein 14; bp; brachypodism; brp; Cartilage-derived morphogenetic protein 1; cartilage-derived morphogenetic protein-1; CDMP1; Cdmp-1; GDF5; GDF-5; growth differentiation factor 5; growth/differentiation factor 5; H-GDF-5; LAP4; LAP-4; Lipopolysaccharide-associated protein 4; LPS-associated protein 4; OS5; radotermin; SYM1B; SYNS2
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