| Gene Symbol |
FMR1
|
| Gene Synonyms |
POF FMRP POF1 FRAXA |
| Gene Full Name |
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] |
| Alternative Names |
FMR 1 Fmr1 Fmr1 gene FMR1_HUMAN FMRP Fragile X mental retardation 1 Fragile X mental retardation 1 protein Fragile X mental retardation protein 1 Fragile X mental retardation protein fragile X mental retardation syndrome-related protein 1 fragile X mental retardation autosomal homolog 1 FRAXA fxr1 MGC87458 POF POF1 Protein FMR-1 Protein FMR1 wu:fb16f11 wu:fd18c10 zgc:66226 |
| Molecular Weight(MW) |
71 kDa |
| Cellular Localization |
Cell membrane,Cell projection,Centromere,Chromosome,Cytoplasm,Membrane,Nucleus,Postsynaptic cell membrane,Synapse,Synaptosome. |