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]
Alternative Names
activin A receptor type II-like kinase 53kDa activin A receptor type II-like protein kinase of 53kD activin receptor-like kinase 5 mutant transforming growth factor beta receptor I ser serine/threonine-protein kinase receptor R4 tgf beta receptor 1 TGF-beta receptor type I TGF-beta receptor type-1-like TGF-beta type I receptor Tgfbr1 TGFR1 Transfor transforming growth factor beta receptor I transforming growth factor beta receptor I transforming growth factor-beta receptor type I