Western blot analysis of FMR1 over-expressed 293 cell line, cotransfected with FMR1 Validated Chimera RNAi ( Cat # H00002332-R01V ) (Lane 2) or non-transfected control (Lane 1). Blot probed with FMR1 monoclonal antibody (M01), clone 2D4 (Cat # H00002332-M01 ). GAPDH ( 36.1 kDa ) used as specificity and loading control.
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). [provided by RefSeq