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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.
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Protein Aliases: fragile site 10q23.3; Protein FRA10AC1; Protein FRA10AC1 homolog; rare folic acid-type fragile site, FRA(10)(q23.3), candidate gene 1
Gene Aliases: 5730455O13Rik; AI448293; C10orf4; F26C11.1-like; FRA10A; FRA10AC1; PRO2972
UniProt ID: (Human) Q70Z53, (Mouse) Q8BP78
Entrez Gene ID: (Human) 118924, (Mouse) 70567
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