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. GO annotations related to this gene include protein kinase binding and growth factor activity. An important paralog of this gene is GDF1.
UniProtKB/Swiss-Prot for GDF3 Gene
Growth factor involved in early embryonic development and adipose-tissue homeostasis. During embryogenesis controls formation of anterior visceral endoderm and mesoderm and the establishment of anterior-posterior identity through a receptor complex comprising the receptor ACVR1B and the coreceptor TDGF1/Cripto (By similarity). Regulates adipose-tissue homeostasis and energy balance under nutrient overload in part by signaling through the receptor complex based on ACVR1C and TDGF1/Cripto (PubMed:21805089).