Gene:
transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa)
Gene ID:
208182
Symbol:
TGFBR1
Species:
1000
Description:
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).