FMR1 Mutant (I304N) Human Recombinant Protein

Specifications

Product Data
Description	Purified mutant recombinant protein of Human fragile X mental retardation 1 (FMR1), transcript variant ISO1，mutation at（I304N)
Species	Human
Expression Host	HEK293T
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	>0.05 µg/µL as determined by microplate Bradford method
Purity	> 80% as determined by SDS-PAGE and Coomassie blue staining
Buffer	25 mM Tris-HCl, 100 mM glycine, pH 7.3, 10% glycerol
Note	For culture applications, please filter before use. Note that you may experience some loss of protein during the filtration process.
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
Refseq Size	4362
Cytogenetics	Xq27.3
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

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