Growth/Differentiation Factor 5 (GDF5) ELISA Kit for Human

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 that 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, brachydactyly, chondrodysplasia, multiple synostoses syndrome, proximal symphalangism, and susceptibility to osteoarthritis. These associations confirm that this gene product plays a role in skeletal development. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 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, signal peptide; Secreted

Chromosomal Location of Human Ortholog: 20q11.2

Cellular Component: extracellular region; extracellular space; intracellular; plasma membrane

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

Biological Process: BMP signaling pathway; cell development; cell-cell signaling; chondrocyte differentiation; embryonic limb morphogenesis; extracellular matrix organization and biogenesis; forelimb morphogenesis; growth; 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 apoptosis; regulation of MAPKKK cascade; regulation of multicellular organism growth; 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