SOST是新近发现的基因,该基因突变可导致其编码蛋白Sclerostin的异常表达,引起严重的骨代谢性疾病———Sclerosteosis和Van Buchem病。Sclerostin作为骨形态发生蛋白(BMP)的抑制物,通过竞争性与BMP受体结合,下调BMP的活性而抑制成骨,并通过与核结合因子α1(Cbfα1)和osterix(Osx)之间的相互作用,协调骨代谢过程。由于Sclerostin抑制骨形成,今后有望成为骨质疏松的治疗靶点。 SOST is a recently discovered gene whose mutation leads to the abnormal expression of its encoded protein Sclerostin, causing serious bone metabolic diseases --- Sclerosteosis and Van Buchem’s disease. Sclerostin, as an inhibitor of bone morphogenetic protein (BMP), inhibits osteogenesis by competitively binding to BMP receptors, downregulating BMP activity and through interaction with nuclear binding factor α1 (Cbfα1) and osterix (Osx) Role, coordination of bone metabolism process. As Sclerostin inhibits bone formation, it is expected to become a therapeutic target for osteoporosis in the future.