Aliases for GDF6 Gene
External Ids for GDF6 Gene
Previous HGNC Symbols for GDF6 Gene
Previous GeneCards Identifiers for GDF6 Gene
This gene encodes a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily of secreted signaling molecules. It is required for normal formation of some bones and joints in the limbs, skull, and axial skeleton. Mutations in this gene result in colobomata, which are congenital abnormalities in ocular development, and in Klippel-Feil syndrome (KFS), which is a congenital disorder of spinal segmentation. [provided by RefSeq, Jul 2008]
GeneCards Summary for GDF6 Gene
GDF6 (Growth Differentiation Factor 6) is a Protein Coding gene. Diseases associated with GDF6 include Klippel-Feil Syndrome 1, Autosomal Dominant and Leber Congenital Amaurosis 17. Among its related pathways are p70S6K Signaling and ERK Signaling. GO annotations related to this gene include protein homodimerization activity and growth factor activity. An important paralog of this gene is BMP2.
UniProtKB/Swiss-Prot for GDF6 Gene
Growth factor that controls proliferation and cellular differentiation in the retina and bone formation. Plays a key role in regulating apoptosis during retinal development. Establishes dorsal-ventral positional information in the retina and controls the formation of the retinotectal map (PubMed:23307924). Required for normal formation of bones and joints in the limbs, skull, digits and axial skeleton. Plays a key role in establishing boundaries between skeletal elements during development. Regulation of GDF6 expression seems to be a mechanism for evolving species-specific changes in skeletal strucutres. Seems to positively regulates differentiation of chondrogenic tissue through the growth factor receptors subunits BMPR1A, BMPR1B, BMPR2 and ACVR2A, leading to the activation of SMAD1-SMAD5-SMAD8 complex. The regulation of chondrogenic differentiation is inhibited by NOG (PubMed:26643732). Also involved in the induction of adipogenesis from mesenchymal stem cells. This mechanism acts through the growth factor receptors subunits BMPR1A, BMPR2 and ACVR2A and the activation of SMAD1-SMAD5-SMAD8 complex and MAPK14/p38 (By similarity).