基因名：
TGFBR1
产品别名：
AAT5； ACVRLK4； ALK-5； ALK5； ESS1； LDS1； LDS1A； LDS2A； MSSE； SKR4； TBR-i； TBRI； TGFR-1； tbetaR-I； TGFBR1； transforming growth factor beta receptor 1； transforming growth factor beta receptor 1； TGF-beta receptor type-1； activin A receptor type II-like kinase, 53kDa； activin A receptor type II-like protein kinase of 53kD； activin receptor-like kinase 5； mutant transforming growth factor beta receptor I； serine/threonine-protein kinase receptor R4； transforming growth factor beta receptor I； transforming growth factor-beta receptor type I； TGFBR1蛋白； 转化生长因子β受体Ⅰ(TGFbR1)； 转移生长因子β受体1；
背景信息：
TGF-beta RI, also called ALK-5, is an approximately 55 kDa type I transmembrane serine/threonine receptor kinase. In the presence of TGF-beta, TGF-beta RI forms a complex with, and is phosphorylated by, TGF-beta RII. Phosphorylated TGF-beta RI can then transiently bind and phosphorylate Smad2 and Smad3. TGF-beta functions as a tumor suppressor by inhibiting the cell cycle in the G1 phase. Administration of TGF-beta is able to protect against mammary tumor development in transgenic mouse models in vivo. Disruption of the TGF-beta/SMAD pathway has been implicated in a variety of human cancers, with the majority of colon and gastric cancers being caused by an inactivating mutation of TGF-beta RII. TGF-beta RI is likely important during development, since mice deficient for TGF-beta RI die at midgestation with severe defects in vascular development of the yolk sac and placenta, and an absence of circulating red blood cells. Furthermore, TGF-beta RI appears to be involved in proper lymphatic network development.
