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Gene Review

FMR1  -  fragile X mental retardation 1

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Disease relevance of FMR1


Psychiatry related information on FMR1

  • Disruption of Fxr2 in mice produces learning and memory deficits, and Fmr1 and Fxr2 double-knockout mice have exaggerated impairments in certain neurobehavioral phenotypes relative to the single gene knockouts [1].

High impact information on FMR1

  • Methylation may therefore inhibit FMR1 transcription not only by recruiting histone deacetylases but also by blocking transcription factor binding [2].
  • Hypermethylation of the FMR1 promoter reduces its transcriptional activity, resulting in the mental retardation and macroorchidism characteristic of Fragile X syndrome [2].


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