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Immunogen sequence: MEELVVEVRG SNGAFYKAFV KDVHEDSITV AFENNWQPDR QIPFHDVRFP PPVGYNKDIN ESDEVEVYSR ANEKEPCCWW LAKVRMIKGE FYVIEYAACD
FMR1 binds RNA and is associated with polysomes. The protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat 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. Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: FMRP; fragile X mental retardation protein 1; fragile X mental retardation protein 1 homolog; fragile X mental retardation syndrome 1 homolog; fragile X mental retardation-1 protein; Fragile X messenger ribonucleoprotein; Fragile X messenger ribonucleoprotein 1; MGC87458; Protein FMR-1; ragile X mental retardation protein
基因别名: Fmr-1; FMR1; FMRP; FRAXA; POF; POF1
UniProt ID: (Human) Q06787, (Rat) Q80WE1
Entrez Gene ID: (Human) 2332, (Rat) 24948, (Mouse) 14265