Overview:
TGFβR1 or transforming growth factor, beta-receptor 1 is a member of the TGFβ 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 TGFβR1gene have been associated with Marfan syndrome, Loeys-Deitz Aortic Aneurysm Syndrome, and the development of various types of tumors (1). TGFβR1-dependent signaling is required for angiogenesis but not for the development of hematopoietic progenitor cells and functional hematopoiesis (2).
Gene Aliases:
AAT5, ALK5, SKR4, ALK-5, LDS1A, LSD2A, TGFR-1, ACVRLK4
Genbank Number:
BC071181
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.
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TERT是端粒酶逆转录酶
人的端粒酶是由端粒酶逆转录酶、端粒酶RNA和一种假尿嘧啶合成酶组成

