Immunogen sequence: SETESDHRDE LSDWSLAPTE EERESFLRRG DGRRRGGGGR GQGGRGRGGG FKGNDDHSRT DNRPRNPREA KGRTTDGSLQ IRVDCNNERS VHTKTLQNTS S; Positive Samples: U-251MG, HeLa, Rat brain; Cellular Location: Cytoplasm, Nucleus, nucleolus
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 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; protein FMR-1; ragile X mental retardation protein; Synaptic functional regulator FMR1
Gene Aliases: Fmr-1; FMR1; FMRP; FRAXA; POF; POF1