GDF3, Official Symbol GDF3provided by HGNC Official Full Name growth differentiation factor 3provided by HGNC Primary source HGNC:HGNC:4218 See related Ensembl:ENSG00000184344 MIM:606522; AllianceGenome:HGNC:4218 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KFS3; MCOP7; MCOPCB6 Summary 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] Expression Low expression observed in reference dataset See more Orthologs mouse all