Multifunctional polyribosome-associated RNA-binding protein that plays a central role in neuronal development and synaptic plasticity through the regulation of alternative mRNA splicing, mRNA stability, mRNA dendritic transport and postsynaptic local protein synthesis of target mRNAs (PubMed:12417522, PubMed:16631377, PubMed:18653529, PubMed:19166269, PubMed:23235829, PubMed:25464849). Acts as an mRNA regulator by mediating formation of some phase-separated membraneless compartment: undergoes li

Cytoplasm, Cytoplasmic ribonucleoprotein granuleCytoplasm, Stress granuleCytoplasmPerikaryonCytoplasm, perinuclear regionCell projection, neuron projectionCell projection, axonCell projection, dendriteCell projection, dendritic spineSynapse, synaptosomeCell projection, growth coneCell projection, filopodium tipSynapsePostsynaptic cell membranePresynaptic cell membraneNucleusNucleus, nucleolusChromosome, centromereChromosomeCell membraneNucleus, Cajal body

Fragile X syndrome

An X-linked dominant disease characterized by moderate to severe intellectual disability, macroorchidism (enlargement of the testicles), large ears, prominent jaw, and high-pitched, jocular speech. The defect in most patients results from an amplification of a CGG repeat region in the FMR1 gene and abnormal methylation.