| ID | Sequence | Length | GC content |
|---|---|---|---|
| AGUUGUGCAGGAGAAAGGGGGCGGUCGGCUUUCUCCUUUCAAGAACGAG… | 2368 nt | 0.5904 | |
| GCUCGCUGCCACUGGUUAGCGAUAAUACUGGCAGCGCGACCGGUUUCUG… | 2575 nt | 0.5880 |
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]
A study in human ovarian cancer samples identified the GDF5 as part of the TGF-b signaling pathway within a multi-dimensional module (md-module 5) through integrative analysis of DNA methylation, gene expression, and microRNA expression data [Zhang et al. DOI:10.1093/nar/gks725].