Anti-FMRP/FMR1 Antibody Picoband® Fluoro488 Conjugated

FMR1  (fragile X mental retardation 1) is a  human  gene  that codes for a  protein  called  fragile X  mentalretardation  protein, or FMRP. This protein, most commonly found in the brain, is essential for normal  cognitive development  and female reproductive function. Mutations of this gene can lead to  fragile X syndrome, mental retardation,   premature ovarian failure,   autism,   Parkinson's disease, developmental delays and other cognitive deficits. The protein encoded by this gene binds RNA and is associated with polysomes. Additionally, 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.

Highest levels found in neurons, brain, testis, placenta and lymphocytes. Also expressed in epithelial tissues and at very low levels in glial cells. .

Translation repressor. Component of the CYFIP1-EIF4E- FMR1 complex which binds to the mRNA cap and mediates translational repression. In the CYFIP1-EIF4E-FMR1 complex this subunit mediates translation repression (By similarity) . RNA- binding protein that plays a role in intracellular RNA transport and in the regulation of translation of target mRNAs. Associated with polysomes. May play a role in the transport of mRNA from the nucleus to the cytoplasm. Binds strongly to poly (G), binds moderately to poly (U) but shows very little binding to poly (A) or poly (C) . .

1. Verkerk AJ, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DP, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang FP (May 1991) . Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65 (5) : 905–14. 2. Verheij C, Bakker CE, de Graaff E, Keulemans J, Willemsen R, Verkerk AJ, Galjaard H, Reuser AJ, Hoogeveen AT, Oostra BA (June 1993) . Characterization and localization of the FMR-1 gene product associated with fragile X syndrome. Nature 363 (6431) : 722–4.