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fmr1

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Official Full Name
fragile X mental retardation 1
Background
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]
Synonyms
FMR1; fragile X mental retardation 1; POF; FMRP; POF1; FRAXA; fragile X mental retardation protein 1; POF, POF1, premature ovarian failure 1; MGC87458; protein FMR-1; fragile X mental retardation 1 protein; zFMR1

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