Aliases for FMR1 Gene
External Ids for FMR1 Gene
Previous HGNC Symbols for FMR1 Gene
Previous GeneCards Identifiers for FMR1 Gene
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]
GeneCards Summary for FMR1 Gene
FMR1 (Fragile X Mental Retardation 1) is a Protein Coding gene. Diseases associated with FMR1 include fragile x syndrome and premature ovarian failure 1. Among its related pathways are RNA transport. GO annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is FXR1.
UniProtKB/Swiss-Prot for FMR1 Gene
Translation repressor. Component of the CYFIP1-EIF4E-FMR1 complex which binds to the mRNA cap and mediates translational repression. In the CYFIP1-EIF4E-FMR1 complex this subunit mediates translation repression (By similarity). RNA-binding protein that plays a role in intracellular RNA transport and in the regulation of translation of target mRNAs. Associated with polysomes. May play a role in the transport of mRNA from the nucleus to the cytoplasm. Binds strongly to poly(G), binds moderately to poly(U) but shows very little binding to poly(A) or poly(C).