FMR1, Official Symbol FMR1provided by HGNC Official Full Name fragile X messenger ribonucleoprotein 1provided by HGNC Primary source HGNC:HGNC:3775 See related Ensembl:ENSG00000102081 MIM:309550; AllianceGenome:HGNC:3775 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as POF; FMRP; POF1; FRAXA 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] Expression Ubiquitous expression in thyroid (RPKM 16.8), brain (RPKM 15.9) and 25 other tissues See more Orthologs mouse all