CGGBP1 influences expression of the FMR1 gene (MIM 309550), which is associated with the fragile X mental retardation syndrome (MIM 300624), by specifically interacting with the 5-prime (CGG)n-3-prime repeat in its 5-prime UTR.[supplied by OMIM
Immunogen
CGGBP1 (NP_003654, 58 a.a. ~ 167 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.
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Solution in phosphate buffered saline, pH 7.4
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European journal of human genetics : EJHG, 24(5), 697-703 (2015-08-27)
Fragile X syndrome is the most common heritable form of intellectual disability and is caused by the expansion over 200 repeats and subsequent methylation of the CGG triplets at the 5' UTR of the FMR1 gene, leading to its silencing.
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