Growth and Differentiation Factor 5 (GDF5) Human Active Protein

The protein encoded by this gene is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is 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. Mutations in this gene are associated with acromesomelic dysplasia, Hunter-Thompson type; brachydactyly, type C; and chondrodysplasia, Grebe type. These associations confirm that the gene product plays a role in skeletal development. [provided by RefSeq, Jul 2008]

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, signal peptide; Secreted

Chromosomal Location of Human Ortholog: 20q11.2

Cellular Component: extracellular space; extracellular region; plasma membrane

Molecular Function: identical protein binding; protein binding; growth factor activity; cytokine activity; transforming growth factor beta receptor binding

Biological Process: hindlimb morphogenesis; extracellular matrix organization and biogenesis; regulation of multicellular organism growth; BMP signaling pathway; forelimb morphogenesis; regulation of apoptosis; positive regulation of chondrocyte differentiation; cell-cell signaling; transforming growth factor beta receptor signaling pathway; regulation of MAPKKK cascade; chondrocyte differentiation; negative regulation of neuron apoptosis; positive regulation of neuron differentiation; cell development; growth; embryonic limb morphogenesis; negative regulation of epithelial cell proliferation

Disease: Chondrodysplasia, Grebe Type; Acromesomelic Dysplasia, Hunter-thompson Type; Brachydactyly, Type A1, C; Brachydactyly, Type A2; Symphalangism, Proximal, 1b; Fibular Hypoplasia And Complex Brachydactyly; Brachydactyly, Type C; Osteoarthritis Susceptibility 5; Multiple Synostoses Syndrome 2