Abstract
The FMR1 gene encodes for FMRP, a RNA-binding protein implicated in the regulation of mRNA translation and/or transport. An expansion of the trinucleotide repeats (CGG) in the 5' UTR, which is normally found at 6-53 copies, is the cause of fragile X syndrome, premature ovarian failure (POF1), and fragile X tremor/ataxia syndrome (FTXAS) depending on the degree of trinucleotide repeat expansion.
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