|Application ||WB, E|
|Other Accession||NP_002015, 2332|
|Predicted||Mouse, Rat, Dog|
|Calculated MW||71174 Da|
|Other Names||Fragile X mental retardation protein 1, FMRP, Protein FMR-1, FMR1|
|Format||0.5 mg IgG/ml in Tris saline (20mM Tris pH7.3, 150mM NaCl), 0.02% sodium azide, with 0.5% bovine serum albumin|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C in small aliquots to prevent freeze-thaw cycles.|
|Precautions||Goat Anti-FMR1 Antibody is for research use only and not for use in diagnostic or therapeutic procedures.|
|Function||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).|
|Cellular Location||Cytoplasm. Nucleus, nucleolus.|
|Tissue Location||Highest levels found in neurons, brain, testis, placenta and lymphocytes. Also expressed in epithelial tissues and at very low levels in glial cells|
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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.
An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis. Chen L, et al. J Mol Diagn, 2010 Sep. PMID 20616364.
Genetic diversity of the fragile X syndrome gene (FMR1) in a large Sub-Saharan West African population. Peprah EK, et al. Ann Hum Genet, 2010 Jul. PMID 20597902.
An fMRI study of the prefrontal activity during the performance of a working memory task in premutation carriers of the fragile X mental retardation 1 gene with and without fragile X-associated tremor/ataxia syndrome (FXTAS). Hashimoto RI, et al. J Psychiatr Res, 2010 May 26. PMID 20537351.
hnRNP C promotes APP translation by competing with FMRP for APP mRNA recruitment to P bodies. Lee EK, et al. Nat Struct Mol Biol, 2010 Jun. PMID 20473314.
A simple, high-throughput assay for Fragile X expanded alleles using triple repeat primed PCR and capillary electrophoresis. Lyon E, et al. J Mol Diagn, 2010 Jul. PMID 20431035.
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