CUL-7 Background Information
Cullin proteins comprise a distinct family of mediators that participate in the selective targeting of proteins for ubiquitin (Ub)-mediated proteolysis. CUL-7 mediates the third step of ubiquitin conjugation as part of an SCF-like complex consisting of CUL-7, RBX1, SKP1, FBXW8 and GLMN isoform 1, which interacts with a complex of SKP1 and FBXW8, but not with SKP1 alone. This complex is thought to play a role in the degradation of proteins involved in proliferation and/or differentiation. 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. Defects in the gene encoding CUL-7 result in 3-M syndrome, an autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, facial dysmorphism, large head circumference and skeletal changes, including long slender tubular bones and tall vertebral bodies.
