FRA10AC1 抗体
(Fragile Site, Folic Acid Type, Rare, Fra(10)(q23.3) Or Fra(10)(q24.2) Candidate 1 (FRA10AC1))
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. [provided by RefSeq, Mar 2010].