基因名称：TGFBR1 （transforming growth factor beta receptor 1）
别名： AAT5,ALK5,ESS1,LDS1,MSSE,SKR4,TBRI,ALK-5,LDS1A,LDS2A,TBR-i,TGFR-1,ACVRLK4,tbetaR-I
基因ID：7046
Chromosome(GRCh37) ：9 Start: 101867412 End: 101916474 Strand:
信号通路：
靶向药：
化疗药：
简介：该基因编码的蛋白质与tgf-β结合时，与ii型tgf-β受体形成异基因复合物，将细胞表面的tgf-β信号转导至细胞质。编码的蛋白质是丝氨酸/苏氨酸蛋白激酶。该基因突变与loeys-dietz主动脉瘤综合征（ldas）有关。已发现该基因编码不同亚型的多个转录变体。[由RefSeq提供，2008年8月]The protein encoded by this gene forms a heteromeric complex with type II TGF-beta receptors when bound to TGF-beta, transducing the TGF-beta signal from the cell surface to the cytoplasm. The encoded protein is a serine/threonine protein kinase. Mutations in this gene have been associated with Loeys-Dietz aortic aneurysm syndrome (LDAS). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
TGFBR1突变与药物：
