背景资料：The protein encoded by this gene is a component of an E3 ubiquitin-protein ligase complex. The encoded protein interacts with TP53, CUL9, and FBXW8 proteins. Defects in this gene are a cause of 3M syndrome type 1 (3M1). Two transcript variants encoding different isoforms have been found for this gene. CUL-7 is highly expressed in fetal kidney and adult skeletal muscle in addition to abundant expression in fetal brain, and adult pancreas, kidney, placenta and heart. It is also detected in trophoblasts, lymphoblasts, osteoblasts, chondrocytes and skin fibroblasts.