84-4367-71　FMRP, NT (Fragile X mental retardation protein 1) 100ug　350622

特徴

• FMR1 (fragile X mental retardation 1) is a human gene that codes for a protein called fragileX mentalretardation protein, or FMRP.
• This protein, most commonly found in the brain, is essential for normal cognitive development and female reproductive function.
• Mutations of this gene can lead to fragile X syndrome, mental retardation, premature ovarian failure, autism, Parkinson's disease, developmental delays and other cognitive deficits.
• The protein encoded by this gene binds RNA and is associated with polysomes.
• Additionally, 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.
• Applications:Suitable for use in Western Blot.
• Recommended Dilution:Western Blot: 0.1-0.5ug/ml Optimal dilutions to be determined by the researcher.
• Storage and Stability:Lyophilized powder may be stored at -20°C.
• Stable for 12 months after receipt at -20°C.
• Reconstitute with sterile ddH2O.
• Aliquot to avoid repeated freezing and thawing.
• Store at -20°C.
• Reconstituted product is stable for 12 months at -20°C.
• For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
• Further dilutions can be made in assay buffer.