Entrez gene ID | | 7046 |
Official gene symbol | | TGFBR1 |
Full name | | transforming growth factor, beta receptor 1 |
Aliases | | ,AAT5,ACVRLK4,ALK-5,ALK5,LDS1A,LDS2A,SKR4,TGFR-1, |
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] |
Location | | Chromosome: 9 Locus: 9q22 |
Gene position | | 101867412 - 101916474 Map Viewer |
Gene orientation | | plus |
Gene size | | 49063 bp |
Gene sequence |
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OMIM ID | | 190181 |
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