| TGFBR1 |
| LOCUS ID | 7046 | ||||||||||
| GENE_SYMBOL | TGFBR1 | ||||||||||
| GENE NAME | transforming growth | ||||||||||
| SYNONYMNS | AAT5, ALK5, ESS1, LDS1, MSSE, SKR4, ALK-5, LDS1A, LDS2A, TGFR-1, ACVRLK4, tbetaR-I | ||||||||||
| CHROMOSOME | 9 | ||||||||||
| HOMOLOGENE ID | 3177 |
| microRNAs | NA | NA |
| GENE SUMMARY |
|---|
| 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] |
| OBSERVATIONS |
|---|
| Complication | Evidence | PMID |
| Nephropathy | 1. Consistent with these observations, let-7b expression was also reduced in models of both diabetic and non-diabetic renal fibrosis with the upregulation of TGFBR1. | 24088962 |