Nodal

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 the mature protein, which regulates early embryonic development. Homozygous knockout mice for this gene exhibit early embryonic lethality, while expression of a hypomorphic allele results in defects in anteroposterior and left-right patterning. [provided by RefSeq, Aug 2016]

本基因编码TGF-β（转化生长因子-β）超家族蛋白的分泌配体。该家族的配体与多种TGF-β受体结合，导致SMAD家族转录因子的募集和激活，进而调节基因表达。编码的前体蛋白经过蛋白酶处理生成成熟的蛋白质，该蛋白质调控早期胚胎发育。该基因纯合敲除小鼠表现出早期胚胎致死，而低效能等位基因的表达则导致前后轴和左右轴的形态发生缺陷。[由RefSeq提供，2016年8月]