Human FMR1 (phospho S499) blocking peptide

Nature

Synthetic

Tag/Conjugate

Unconjugated

Purity

> 95 % by SDS-PAGE.

Format

Lyophilized

Preservative

None

Storage

Shipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles. Information available upon request.

Reconstitution

FMR1 peptide is supplied as 1mg of dried peptide. When the peptide is reconstituted in 1 mL strile water, the concentration will be 1 mg/mL.

Introduction

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]

Gene ID

2332

UniProt ID

G8JLE9

Synonyms

FMR1; fragile X mental retardation 1; POF; FMRP; POF1; FRAXA; fragile X mental retardation protein 1;