FMR1 Antibody

Fragile X syndrome is a frequent form of inherited mental retardation caused by functional loss of the fragile X mental retardation protein, FMR1, also known as FMRP (1). FMR1 binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm (2). 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 (1). Expansion of the trinucleotide repeat may also cause one form of premature ovarian failure (POF1) (3).