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.
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Protein Aliases: FMRP; Fragile X mental retardation protein 1; Fragile X mental retardation protein 1 homolog; fragile X mental retardation syndrome 1 homolog; fragile X mental retardation-1 protein; MGC87458; protein FMR-1; ragile X mental retardation protein; Synaptic functional regulator FMR1
Gene Aliases: Fmr-1; FMR1; FMRP; FRAXA; POF; POF1