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TGFBR1

Official Full Name
transforming growth factor, beta receptor 1
Background
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.
Synonyms
TGFBR1; transforming growth factor, beta receptor 1; transforming growth factor, beta receptor I (activin A receptor type II like kinase, 53kD); TGF-beta receptor type-1; activin A receptor type II like kinase; 53kDa; ACVRLK4; ALK 5; tbetaR-I; TGF-beta re; transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa); ChALK5; Activin like receptor kinase 5

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