FMR1 (fragile X mental retardation 1) is a human gene that codes for a protein called fragile X mental retardation protein, or FMRP. This protein, most commonly found in the brain, is essential for normalcognitive developmentand 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.
Formulation
0.5mg/ml if reconstituted with 0.2ml sterile DI water
Host
Rabbit
Immunogen Region
Amino acids ENYQLVILSINEVTSKRAHMLIDMHFRSLRTKLSLIM of human FMRP were used as the immunogen for the FMRP antibody.
Isotype
IgG
Predicted Reactivity
Human, Mouse, Rat
Reactivity
Human, Mouse, Rat
Recombinant
No
Antigen
FMRP
Uniprot
Q06787
Format
Antigen affinity purified
Purification
Antigen affinity
Storage
After reconstitution, the FMRP antibody can be stored for up to one month at 4°C. For long-term, aliquot and store at -20°C. Avoid repeated freezing and thawing.