TGFB1(transforming growth factor beta 1),癌症关联基因,基因ID:7040,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潜伏相关肽(LAP)和成熟肽,发现其为由成熟肽同二聚体、LAP同二聚体和潜在TGFβ结合蛋白组成的潜伏形式,或为仅由成熟肽同二聚体组成的活性形式。成熟肽也可能与其他tgfb家族成员形成异二聚体。这种编码蛋白调节细胞增殖、分化和生长,并能调节包括干扰素γ和肿瘤坏死因子α在内的其他生长因子的表达和激活。这种基因在肿瘤细胞中经常上调,这种基因的突变会导致化脓性恩格曼病[由RefSeq提供,2016年8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 a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. 。