菜单 基因医生

该基因编码TGFβ（转化生长因子β）超家族的一个分泌配体这个家族的配体结合各种tgfβ受体，导致调节基因表达的smad家族转录因子的募集和激活。编码的前蛋白经蛋白质水解处理以产生二硫键连接的同二聚体的每个亚单位。啮齿动物的研究表明，这种蛋白参与了胚胎早期左右不对称的建立和胚胎后期的神经发育编码的蛋白质从双顺反子mRNA翻译而来，双顺反子mRNA也编码神经酰胺合酶1该基因突变与几种先天性心血管畸形有关。[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]