Overview:

TGFBR1 or transforming growth factor, beta-receptor 1 is a member of the TGFbeta receptor subfamily and is a ser/thr protein kinase that 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. Mutations in TGFBR1gene have been associated with Marfan syndrome, Loeys-Deitz Aortic Aneurysm Syndrome, and the development of various types of tumors (1). TGFBR1-dependent signaling is required for angiogenesis but not for the development of hematopoietic progenitor cells and functional hematopoiesis (2).

Gene Aliases:

ALK5, ALK-5, TbetaR-1, TbetaR1

Genbank Number:

BC063260

References:

1. Singh, K. et.al: TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys- Dietz syndrome. Hum. Mutat. 27: 770-777, 2006.

2. Larsson, J. et.al: Abnormal angiogenesis but intact hematopoietic potential in TGF-beta type I receptor-deficient mice. EMBO J. 20: 1663-1673, 2001.