FMR1

The Fragile X Mental Retardation Protein ( FMRP ) (gene name: FMR1 ) is a protein in vertebrates that binds to certain types of RNA and is involved in their transport and their translation. In humans, the largest quantities of FMRP found in neurons in the brain, testis, placenta and lymphocytes. Mutations in the FMR1 gene are triggers for the fragile X syndrome ( FXS), the Primary ovarian insufficiency (POI ) as well as for the fragile X -associated Tremor-/Ataxie-Syndrom ( FXTAS ).

Structure

FMRP has three RNA - binding domains (two KH domains and an RGG box) as well as a nuclear localization signal sequence ( NLS) and nuclear export signal sequence ( NES).

Function

FMRP circulates between the nucleus and the cytoplasm. By the NLS FMRP enters the nucleus and the nucleolus, where it combines with ribosomal subunits. The NES, the complex is transported back into the cytoplasm where it is bound to the mRNA.

FMRP binds approximately 4 % of the mRNA in the brain and is involved in the transport to the corresponding ribosomes. It is also responsible for cell growth, cell polarity and organization of synaptic plasticity of neurons on the spatial regulation of protein biosynthesis. This is important for learning and memory performance. It is associated with learning and thinking in combination, as a loss of protein through closure of its encoding gene FMR1 for fragile X syndrome, which often results in mental retardation result.

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