{"symbol":"GDF6","synonyms":["BMP13","KFS1","KFM","KFSL","MCOP4","BMP-13","CDMP2","KFS","SGM1","LCA17","SYNS4"],"name":"growth differentiation factor 6","description":"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 is required for normal formation of some bones and joints in the limbs, skull, and axial skeleton. Mutations in this gene are associated with Klippel-Feil syndrome, microphthalmia, and Leber congenital amaurosis. [provided by RefSeq, Sep 2016]","ncbiEntrezGeneId":392255,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/392255","proteins":[{"symbol":"GDF6_HUMAN","href":"/api/1.0/protein/GDF6_HUMAN"}],"hgncRootFamilies":[]}