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]
| 基因名： | TGFBR1 |
| 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： |
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