|Other Names||Protein FRG1, FSHD region gene 1 protein, FRG1|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||Binds to mRNA in a sequence-independent manner. May play a role in regulation of pre-mRNA splicing or in the assembly of rRNA into ribosomal subunits. May be involved in mRNA transport. May be involved in epigenetic regulation of muscle differentiation through regulation of activity of the histone-lysine N- methyltransferase SUV420H1.|
|Cellular Location||Nucleus, Cajal body. Nucleus, nucleolus. Cytoplasm. Cytoplasm, myofibril, sarcomere, Z line Note=Localization changes during myogenesis from mainly cytoplasmic in undifferentiated myoblasts, to strongly nucleolar in early myotubes and back to cytoplasmic 5 days post- differentiation. Localized at the Z-line in the sarcomere of matured myotubes 8 days post-differentiation|
|Tissue Location||Expressed in adult muscle, lymphocytes, fetal brain, muscle, and placenta. Also expressed in the smooth muscle of arteries and veins, the sweat glands and the epidermis|
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This gene maps to a location 100 kb centromeric of therepeat units on chromosome 4q35 which are deleted infacioscapulohumeral muscular dystrophy (FSHD). It is evolutionarilyconserved and has related sequences on multiple human chromosomesbut DNA sequence analysis did not reveal any homology to knowngenes. In vivo studies demonstrate the encoded protein is localizedto the nucleolus.
Hanel, M.L., et al. Dev. Dyn. 238(6):1502-1512(2009)Bodega, B., et al. BMC Biol. 7, 41 (2009) :Pirozhkova, I., et al. PLoS ONE 3 (10), E3389 (2008) :Lamesch, P., et al. Genomics 89(3):307-315(2007)Gabellini, D., et al. Nature 439(7079):973-977(2006)
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