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The protein encoded by this gene is a nuclear phosphoprotein of unknown function. The 5' UTR of this gene is part of a CpG island and contains a tandem CGG repeat region that normally consists of 8-14 repeats but can expand to over 200 repeats. The expanded allele becomes hypermethylated and is not transcribed; however, an expanded repeat region has not been associated with any disease phenotype. This gene is found within the rare FRA10A folate-sensitive fragile site.
Gene Name: | fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1 |
Synonyms: | FRA10AC1 |
Target Sequences: | NM_145246 NP_660289.2 |
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