Biochem/physiol Actions

Fragile X mental retardation 1 (FMR1) plays a vital role in neuronal development and maturation. Deletion or lack of expression of the gene encoding FMRP results in fragile X syndrome. FMRP1 acts as a vital element of messenger ribonucleoprotein complexes present within the translation apparatus, and is involved in the regulation of mRNA translation.

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General description

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)

Immunogen

FMR1 (NP_002015, 121 a.a. ~ 220 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.SequenceATKDTFHKIKLDVPEDLRQMCAKEAAHKDFKKAVGAFSVTYDPENYQLVILSINEVTSKRAHMLIDMHFRSLRTKLSLIMRNEEASKQLESSRQLASRFH

Legal Information

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Physical form

Solution in phosphate buffered saline, pH 7.4