Fragile X mental retardation 1 protein; protein FMR-1; FMRP (FMR1)

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Function

Structure

  • homooligomer
  • belongs to the FMR1 family
  • contains 2 KH domains

Compartment

cytoplasm, nucleus, nucleolus

Alternative splicing

named isoforms=8 at least 12 different isoforms are produced

Expression

also expressed in epithelial tissues & at very low levels in glial cells

Pathology

More general terms

Component of

References

  1. Ross CA, McInnis MG, Margolis RL, Li SH. Genes with triplet repeats: candidate mediators of neuropsychiatric disorders. Trends Neurosci. 1993 Jul;16(7):254-60. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/7689767
  2. Siomi H, Siomi MC, Nussbaum RL, Dreyfuss G. The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein. Cell. 1993 Jul 30;74(2):291-8. PMID: https://www.ncbi.nlm.nih.gov/pubmed/7688265
  3. UniProt http://www.uniprot.org/uniprot/Q06787.html
  4. GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=FMR1

Database