靶标:
Gdf6
产品别名:
BMP-13; BMP13; GDF16; Gdf6; growth differentiation factor 6; growth differentiation factor 6; growth/differentiation factor 6; GDF-6; bone morphogenetic protein 13; growth/differentiation factor 16; 生长分化因子6; 生长分化因子6(GDF6);
背景信息:
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],