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FMR1 binds RNA and is associated with polysomes. The protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat in the 5' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome. Expansion of the trinucleotide repeat may also cause one form of premature ovarian failure. Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene.
AT24755; BcDNA:GM08679; cg 6203 gene product from transcript cg6203-rc; cg6203; CG6203-PA; CG6203-PB; CG6203-PC; CG6203-PD; CG6203-PE; CG6203-PF; CG6203-PG; CG6203-PH; CG6203-PI; CG6203-PJ; CG6203-PK; dFMR; DFmr1; dFmrp; dfxr; dfxr1; dFXRP; Dmel\CG6203; Dmel_CG6203; dmfr1; drosophila fragile X mental retardation protein; EP(3)3517; FMR; FMR1; Fmr-1; Fmr1-PA; Fmr1-PB; Fmr1-PC; Fmr1-PD; Fmr1-PE; Fmr1-PF; Fmr1-PG; Fmr1-PH; Fmr1-PI; Fmr1-PJ; Fmr1-PK; FMRP; FMRP translational regulator 1; fragile X; fragile X mental retardation; fragile X mental retardation 1; fragile X mental retardation gene; fragile X mental retardation protein; fragile X mental retardation protein 1; Fragile X mental retardation protein 1 homolog; fragile X mental retardation related 1; fragile X mental retardation syndrome 1; fragile X mental retardation syndrome 1 homolog; Fragile X mental retardation syndrome-related protein 1; fragile X mental retardation-1 protein; fragile X protein; fragile x related; fragile X related protein; fragile X retardation 1 protein; fragile X-related; fragile-X; Fragile-X mental retardation 1; Fragile-X mental retardation protein; Fragile-X-related; FRAXA; FXR; MGC87458; POF; POF1; protein FMR-1; ragile X mental retardation protein; synaptic functional regulator FMR1
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