Entrez 118924 | Ensembl ENSG00000148690 | |
Aliases FRA10AC1, C10orf4, F26C11.1-like, FRA10A, fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1 External IDs MGI: 1917817 HomoloGene: 13852 GeneCards: FRA10AC1 | ||
Function
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 hyper-methylated 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.
References
FRA10AC1 Wikipedia(Text) CC BY-SA