[6] This protein, most commonly found in the brain, is essential for normal cognitive development and female reproductive function.

Mutations of this gene can lead to fragile X syndrome, intellectual disability, premature ovarian failure, autism, Parkinson's disease, developmental delays and other cognitive deficits.

A mouse model of Fragile X Messenger Ribonucleoprotein implicated the involvement of FMRP in synaptic plasticity.

It is the production of proteins in response to stimulation which is hypothesized to allow for the permanent physical changes and altered synaptic connections that are linked with the processes of learning and memory.

Group 1 metabotropic glutamate receptor (mGluR) signaling has been implicated in playing an important role in FMRP-dependent synaptic plasticity.

The produced FMRP associates with polyribosomal complexes after mGluR stimulation, proposing the involvement of Fragile X Messenger Ribonucleoprotein in the process of translation.

A study found basal levels of proteins encoded by these target mRNAs to be significantly elevated and improperly regulated in FMRP deficient mice.

[9] FMRP may play an additional role in local protein synthesis by aiding in the association of mRNA cargo and microtubules.

Finally, FMRP synthesis, ubiquitination, and proteolysis occur rapidly in response to mGluR signaling, suggesting an extremely dynamic role of the translational regulator.

Higher numbers of repeats of the CGG segment are associated with impaired cognitive and reproductive function.

[26][27] FMRP occupies sites on meiotic chromosomes and regulates the dynamics of the DNA damage response machinery during spermatogenesis.

These mutations disrupt the 3-dimensional shape of FMRP or prevent the protein from being synthesized, leading to the signs and symptoms of fragile X syndrome.

The gene expression, called heterozygous-normal/low may cause PCOS-like excessive follicle activity and hyperactive ovarian function when women are younger.