Protein Name fragile X messenger ribonucleoprotein 1
Organism Homo sapiens
Gene ID 2332
Gene Symbol

FMR1

UniProt Q06787 (FMR1_HUMAN)
Relationships Total Number of functionally related compound(s) : 163
Total Number of Articles : 421
Description

fragile X messenger ribonucleoprotein 1

Gene Summary

The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome. Expansion of the trinucleotide repeat may also cause one form of premature ovarian failure (POF1). Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene. [provided by RefSeq, May 2010]

synonyms
  • fragile X messenger ribonucleoprotein 1
  • FMRP translational regulator 1
  • synaptic functional regulator FMR1
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Properties