GDF1, Official Symbol GDF1provided by HGNC Official Full Name growth differentiation factor 1provided by HGNC Primary source HGNC:HGNC:4214 See related Ensembl:ENSG00000130283 MIM:602880; AllianceGenome:HGNC:4214 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 RAI; DORV; LAG1; UOG1; CERS1; CHTD6; DTGA3; LASS1 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. Studies in rodents suggest that this protein is involved in the establishment of left-right asymmetry in early embryogenesis and in neural development in later embryogenesis. The encoded protein is translated from a bicistronic mRNA that also encodes ceramide synthase 1. Mutations in this gene are associated with several congenital cardiovascular malformations. [provided by RefSeq, Jul 2016] Expression Biased expression in brain (RPKM 26.0) and testis (RPKM 5.5) See more Orthologs mouse all