The protein encoded by this gene binds RNA and isassociated with polysomes. The encoded protein may be involved inmRNA trafficking from the nucleus to the cytoplasm. A trinucleotiderepeat (CGG) in the 5' UTR is normally found at 6-53 copies, but anexpansion to 55-230 repeats is the cause of fragile X syndrome.Expansion of the trinucleotide repeat may also cause one form ofpremature ovarian failure (POF1). Multiple alternatively splicedtranscript variants that encode different protein isoforms andwhich are located in different cellular locations have beendescribed for this gene.
Pathway
RNA transport
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