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cep57

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Official Full Name
centrosomal protein 57kDa
Background
This gene encodes a cytoplasmic protein called Translokin. This protein localizes to the centrosome and has a function in microtubular stabilization. The N-terminal half of this protein is required for its centrosome localization and for its multimerization, and the C-terminal half is required for nucleating, bundling and anchoring microtubules to the centrosomes. This protein specifically interacts with fibroblast growth factor 2 (FGF2), sorting nexin 6, Ran-binding protein M and the kinesins KIF3A and KIF3B, and thus mediates the nuclear translocation and mitogenic activity of the FGF2. It also interacts with cyclin D1 and controls nucleocytoplasmic distribution of the cyclin D1 in quiescent cells. This protein is crucial for maintaining correct chromosomal number during cell division. Mutations in this gene cause mosaic variegated aneuploidy syndrome, a rare autosomal recessive disorder. Multiple alternatively spliced transcript variants encoding different isoforms have been identified.
Synonyms
CEP57; centrosomal protein 57kDa; centrosomal protein of 57 kDa; KIAA0092; Translokin; TSP57; Cep57 protein; FGF2 interacting protein; PIG8; Proliferation inducing protein 8; Testis specific protein 57; OTTHUMP00000236690; OTTHUMP00000236691; OTTHUMP00000236698; FGF2-interacting protein; testis-specific protein 57; proliferation-inducing protein 8; MVA2; MVA2, PIG8, TSP57; centrosomal protein 57; zgc:158647