Full name: growth differentiation factor 1

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: CERS1; CHTD6; DORV; DTGA3; LAG1; LASS1; RAI; UOG1

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)

Gene size: 27614bp

Exon count: 8