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Description

RAN, a small GTP binding protein, belonging to the RAS superfamily is involved in the translocation of RNA and proteins through the nuclear pore complex and participate in the control of DNA synthesis and cell cycle progression. LPAC (Leu-Pro-Ala-Cys) RAN proteins that are primarily localized to cytoplasmic region are reported to accumulate in the gray matter region of the brain of subjects with myotonic dystrophy type 2 (DM2). LPAC cytoplasmic aggregates are found in neurons, astrocyte, and glia. LPAC proteins are shown to be toxic to cells independent of RNA effects and are found in regions of the brain that display pathologic changes. Studies have shown that tetranucleotide DM2 CCTG expansion mutation is bidirectionally transcribed and the resulting RNAs are RAN translated and produce tetrapeptide expansion proteins with LPAC from the sense strand and that these proteins accumulate in DM2 patient brains. (Ref.: Zu, T., et al. (2017). Neuron 95 (8), 1292-1305).