FMR1 Mutant (I304N) Human Recombinant Protein

CAT#: TP701140

Purified mutant recombinant protein of Human fragile X mental retardation 1 (FMR1), transcript variant ISO1，mutation at（I304N)

Product Images

Purified recombinant protein FMR1 (I304N) was analyzed by SDS-PAGE gel and Coomossie Blue Staining.

Specifications

Product Data

• Species: Human
• Expression Host: HEK293
• Expression cDNA Clone or AA Sequence: A DNA sequence from TrueORF clone, RC222699, encoding the full-length of FMR1 (I304N)
• Tag: Myc-DDK
• Predicted MW: 71 kDa
• Concentration: >50 ug/mL as determined by microplate Bradford method
• Purity: > 80% as determined by SDS-PAGE and Coomassie blue staining
• Buffer: 25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol
• Storage: Store at -80°C after receiving vials.
• Stability: Stable for at least 12 months from receipt of products under proper storage and handling conditions. Avoid repeated freeze-thaw cycles.

Reference Data

• RefSeq: NP_002015.1
• Locus ID: 2332
• Cytogenetics: Xq27.3
• Refseq Size: 4362
• Refseq ORF: 1896
• Synonyms: FMRP; FRAXA; POF; POF1; POFX
• Summary: '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. [provided by RefSeq, May 2010]'
• Protein Families: Druggable Genome