該基因編碼TGFβ(轉化生長因子β)超家族的一個分泌配體這個家族的配體結合各種tgfβ受體,導致調節基因表達的smad家族轉錄因子的募集和激活。編碼的前蛋白經蛋白質水解處理以產生二硫鍵連接的同二聚體的每個亞單位。嚙齒動物的研究表明,這種蛋白參與了胚胎早期左右不對稱的建立和胚胎后期的神經發育編碼的蛋白質從雙順反子mRNA翻譯而來,雙順反子mRNA也編碼神經酰胺合酶1該基因突變與幾種先天性心血管畸形有關。[由RefSeq提供,2016年7月]
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]