Recombinant Human FMR1 Mutant (I304N) Protein, Myc/DDK-tagged

• Cat.No.: FMR1-058H
• Product Overview: Purified mutant recombinant protein of Human fragile X mental retardation 1 (FMR1), transcript variant ISO1, mutation at(I304N) with a Myc/DDK tag was expressed in HEK293

Specification

• 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). Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene.
• Source: HEK293
• Species: Human
• Tag: Myc/DDK
• Molecular Mass: 71 kDa
• Purity: > 80% as determined by SDS-PAGE and Coomassie blue staining
• Stability: Stable for at least 12 months from receipt of products under proper storage and handling conditions. Avoid repeated freeze-thaw cycles.
• Storage: Store at -80 centigrade after receiving vials.
• Concentration: > 50 μg/mL as determined by microplate Bradford method
• Storage Buffer: 25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol

Gene Information

• Gene Name: FMR1 FMRP translational regulator 1 [ Homo sapiens (human) ]
• Official Symbol: FMR1
• Synonyms: FMR1; FMRP translational regulator 1; POF; FMRP; POF1; FRAXA; synaptic functional regulator FMR1; fragile X mental retardation 1; fragile X mental retardation protein 1; truncated FMRP
• Gene ID: 2332
• mRNA Refseq: NM_002024
• Protein Refseq: NP_002015
• MIM: 309550
• UniProt ID: Q06787