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; MGC87458; Synaptic functional regulator FMR1
Gene Aliases: FMR1; FMRP; FRAXA; POF; POF1
UniProt ID: (Human) Q06787
Entrez Gene ID: (Human) 2332