Fragile X Mental Retardation 1 Protein

from Wikipedia, the free encyclopedia
Fragile X Mental Retardation 1 Protein
Properties of human protein
Mass / length primary structure 632 amino acids
Secondary to quaternary structure Homooligomer
Isoforms min. 12
Identifier
Gene name FMR1
External IDs
Occurrence
Parent taxon Vertebrates

The Fragile X Mental Retardation Protein (FMRP) ( gene name: FMR1 ) is a protein found in vertebrates that binds to certain types of RNA and is involved in its transport and translation . In humans, the greatest amounts of FMRP are found in neurons , the brain , testes , placenta, and lymphocytes . Mutations in the FMR1 gene are the triggers for Fragile X Syndrome (FXS), Primary Ovarian Failure (POI) and Fragile X-Associated Tremor / Ataxia Syndrome (FXTAS).

structure

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

function

FMRP circulates between the nucleus and the cytoplasm . Through the NLS, the FMRP reaches the cell nucleus and the nucleolus , where it is bound to mRNA . The NES transports this complex back into the cytoplasm, where it combines with ribosome subunits.

FMRP binds about 4% of the mRNA in the brain and is involved in the transport to the corresponding ribosomes. Via the spatial regulation of protein biosynthesis, it is responsible, among other things, for cell growth, cell polarity and the organization of the synaptic plasticity of neurons . This is important for learning and memory performance. It has been associated with learning and thinking, as a loss of the protein by disabling its coding gene FMR1 leads to Fragile X syndrome , which often results in intellectual disability.

Individual evidence

  1. Homologues at OMA
  2. Oostra, BA Willemsen, R. (2009): FMR1: a gene with three faces. In: Biochim Biophys Acta . 1790 (6): 467-477. PMID 19233246 doi : 10.1016 / j.bbagen.2009.02.007
  3. Bardoni B, Davidovic L, Bensaid M, Khandjian EW: The fragile X syndrome: exploring its molecular basis and seeking a treatment . In: Expert Rev Mol Med . 8, No. 8, 2006, pp. 1-16. doi : 10.1017 / S1462399406010751 . PMID 16626504 .

literature

  • Shan, G. et al. (2008): FXTAS: a bad RNA and a hope for a cure. In: Expert Opin. Biol. Ther. 8 (3): 249-253. PMID 18294097 , PMC 2592093 (free full text)