Aliases for GDF3 Gene
External Ids for GDF3 Gene
Previous GeneCards Identifiers for GDF3 Gene
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 plays a role ocular and skeletal development. Mutations in this gene are associated with microphthalmia, coloboma, and skeletal abnormalities in human patients. [provided by RefSeq, Aug 2016]
GeneCards Summary for GDF3 Gene
GDF3 (Growth Differentiation Factor 3) is a Protein Coding gene. Diseases associated with GDF3 include Klippel-Feil Syndrome 3, Autosomal Dominant and Microphthalmia, Isolated 7. Among its related pathways are TGF-beta Signaling Pathway (sino). GO annotations related to this gene include protein kinase binding and growth factor activity. An important paralog of this gene is GDF1.