The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) 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 (POF1). Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene. [provided by RefSeq, May 2010]
Alternative Names
alternative splicing of exon 15 exons 15 16 and 17 FMRP FMRP translational regulator 1 FMRP contains neo-disrupted exon 5 alternatively spliced MGC87458 protein FMR-1 RNA-binding protein similar to fragile X mental retardation protein. synaptic functional regulator FMR1 translational regulator synaptic functional regulator unnamed protein product with exon 12 without exon 12