Unconjugated Mouse anti-Human FMR1 (8C2) Monoclonal Antibody [IgM]

POF; FMRP; POF1; FRAXA; Synaptic functional regulator FMR1; Fragile X mental retardation protein 1; Protein FMR-1; FMR1

The protein encoded by this gene binds RNA and is_x000D_ associated with polysomes. The encoded protein may be involved in_x000D_ mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide_x000D_ repeat (CGG) in the 5' UTR is normally found at 6-53 copies, but an_x000D_ expansion to 55-230 repeats is the cause of fragile X syndrome._x000D_ Expansion of the trinucleotide repeat may also cause one form of_x000D_ premature ovarian failure (POF1). Multiple alternatively spliced_x000D_ transcript variants that encode different protein isoforms and_x000D_ which are located in different cellular locations have been_x000D_ described for this gene.