The molecular biology of FMRP: new insights into fragile X syndrome

UMMS Affiliation

Program in Molecular Medicine

Publication Date


Document Type



Amino Acids, Peptides, and Proteins | Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Molecular and Cellular Neuroscience | Molecular Biology | Nervous System Diseases | Neuroscience and Neurobiology


Fragile X mental retardation protein (FMRP) is the product of the fragile X mental retardation 1 gene (FMR1), a gene that - when epigenetically inactivated by a triplet nucleotide repeat expansion - causes the neurodevelopmental disorder fragile X syndrome (FXS). FMRP is a widely expressed RNA-binding protein with activity that is essential for proper synaptic plasticity and architecture, aspects of neural function that are known to go awry in FXS. Although the neurophysiology of FXS has been described in remarkable detail, research focusing on the molecular biology of FMRP has only scratched the surface. For more than two decades, FMRP has been well established as a translational repressor; however, recent whole transcriptome and translatome analyses in mouse and human models of FXS have shown that FMRP is involved in the regulation of nearly all aspects of gene expression. The emerging mechanistic details of the mechanisms by which FMRP regulates gene expression may offer ways to design new therapies for FXS.


FMRP, Fragile X Syndrome, Neurodevelopmental disorder, RNA binding protein

DOI of Published Version



Richter JD, Zhao X. The molecular biology of FMRP: new insights into fragile X syndrome. Nat Rev Neurosci. 2021 Apr;22(4):209-222. doi: 10.1038/s41583-021-00432-0. Epub 2021 Feb 19. PMID: 33608673; PMCID: PMC8094212. Link to article on publisher's site

Journal/Book/Conference Title

Nature reviews. Neuroscience

Related Resources

Link to Article in PubMed

PubMed ID