該基因編碼的蛋白質與tgf-β結合時,與ii型tgf-β受體形成異基因復合物,將細胞表面的tgf-β信號轉導至細胞質。編碼的蛋白質是絲氨酸/蘇氨酸蛋白激酶。該基因突變與loeys-dietz主動脈瘤綜合征(ldas)有關。已發現該基因編碼不同亞型的多個轉錄變體。
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.