SMAD7基因编码的功能和结构描述
这个基因编码的蛋白质是一种结合E3泛素连接酶Smurf2的核蛋白。结合后,这种复合物转移到细胞质中,在细胞质中与tgfβ受体1(tgfbr1)相互作用,导致编码蛋白和tgfbr1降解。TGFBR1可诱导该基因的表达这种基因的变异是结直肠癌3型(crcs3)易感性的一个原因。已经发现了一些编码不同亚型的转录变体。
The protein encoded by this gene is a nuclear protein that binds the E3 ubiquitin ligase SMURF2. Upon binding, this complex translocates to the cytoplasm, where it interacts with TGF-beta receptor type-1 (TGFBR1), leading to the degradation of both the encoded protein and TGFBR1. Expression of this gene is induced by TGFBR1. Variations in this gene are a cause of susceptibility to colorectal cancer type 3 (CRCS3). Several transcript variants encoding different isoforms have been found for this gene.