GDF5 cDNA Clone – Growth Differentiation Factor 5 (Human)

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates the development of numerous tissue and cell types, including cartilage, joints, brown fat, teeth, and the growth of neuronal axons and dendrites. Mutations in this gene are associated with acromesomelic dysplasia, brachydactyly, chondrodysplasia, multiple synostoses syndrome, proximal symphalangism, and susceptibility to osteoarthritis. [provided by RefSeq, Aug 2016]

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

Chromosomal Location of Human Ortholog: 20q11.2

Cellular Component: extracellular region; extracellular space

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

Biological Process: cell development; cell-cell signaling; negative regulation of chondrocyte differentiation; negative regulation of epithelial cell proliferation; positive regulation of BMP signaling pathway; positive regulation of chondrocyte differentiation; regulation of apoptosis; regulation of MAPKKK cascade; SMAD protein nuclear translocation; transforming growth factor beta receptor signaling pathway

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