Gene Symbol | TGFBR1 |
Entrez Gene ID | 7046 |
Full Name | transforming growth factor beta receptor 1 |
Synonyms | AAT5,ACVRLK4,ALK-5,ALK5,ESS1,LDS1,LDS1A,LDS2A,MSSE,SKR4,TBR-i,TBRI,TGFR-1,tbetaR-I |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Loeys-Dietz syndrome 1, 609192 (3); {Multiple self-healing squamous epithelioma, susceptibility to}, 132800 (3) |