Automated description from the Alliance of Genome Resources (Release 7.0.0)
Enables several functions, including SMAD binding activity; transforming growth factor beta binding activity; and transforming growth factor beta receptor activity. Involved in several processes, including epicardium morphogenesis; heart development; and positive regulation of cellular component organization. Acts upstream of or within several processes, including chordate embryonic development; circulatory system development; and collagen fibril organization. Located in endosome. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; respiratory system; and sensory organ. Used to study Loeys-Dietz syndrome; head and neck squamous cell carcinoma; and osteoarthritis. Human ortholog(s) of this gene implicated in Loeys-Dietz syndrome 1; Lynch syndrome; carcinoma (multiple); colorectal cancer; and urinary bladder cancer. Orthologous to human TGFBR1 (transforming growth factor beta receptor 1).