Recombinant Human FMR1

• Cat.No.: FMR1-27458TH
• Product Overview: Recombinant fragment of Human FMRP with N terminal proprietary tag, 36.63kDa inclusive of tag.

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.
• Protein length: 100 amino acids
• Molecular Weight: 36.630kDa inclusive of tags
• Source: Wheat germ
• Tissue specificity: Highest levels found in neurons, brain, testis, placenta and lymphocytes. Also expressed in epithelial tissues and at very low levels in glial cells.
• Form: Liquid
• Purity: Proprietary Purification
• Storage buffer: pH: 8.00Constituents:0.3% Glutathione, 0.79% Tris HCl
• Storage: Shipped on dry ice. Upon delivery aliquot and store at -80oC. Avoid freeze / thaw cycles.
• Sequences of amino acids: ATKDTFHKIKLDVPEDLRQMCAKEA AHKDFKKAVGAFSVTYDPENYQLVI LSINEVTSKRAHMLIDMHFRSLRTK LSLIMRNEEASKQLESSRQLASRFH
• Sequence Similarities: Belongs to the FMR1 family.Contains 2 KH domains.

Gene Information

• Gene Name: FMR1 fragile X mental retardation 1 [ Homo sapiens ]
• Official Symbol: FMR1
• Synonyms: FMR1; fragile X mental retardation 1; POF, POF1, premature ovarian failure 1; fragile X mental retardation 1 protein; FMRP; FRAXA; MGC87458
• Gene ID: 2332
• mRNA Refseq: NM_001185075
• Protein Refseq: NP_001172004
• MIM: 309550
• Uniprot ID: Q06787
• Chromosome Location: Xq27.3
• Pathway: RNA transport, organism-specific biosystem; RNA transport, conserved biosystem
• Function: RNA binding; RNA binding; mRNA binding; protein binding