Gene Symbol | GDF5 |
Entrez Gene ID | 8200 |
Full Name | growth differentiation factor 5 |
Synonyms | BDA1C,BMP-14,BMP14,CDMP1,LAP-4,LAP4,OS5,SYM1B,SYNS2 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(Human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | ?Acromesomelic dysplasia, Hunter-Thompson type, 201250 (3); Brachydactyly, type C, 113100 (3); Chondrodysplasia, Grebe type, 200700 (3); Du Pan syndrome, 228900 (3); Brachydactyly, type A2, 112600 (3); Symphalangism, proximal, 1B, 615298 (3); Multiple synostoses syndrome 2, 610017 (3); {Osteoarthritis-5}, 612400 (3); Brachydactyly, type A1, C, 615072 (3) |