FRA10A associated CGG repeat 1 (FRA10AC1)

FRA10A associated CGG repeat 1 (FRA10AC1) encodes a nuclear phosphoprotein of unknown function in humans. The gene is notable for containing a tandem CGG repeat in its 5' untranslated region (UTR), located within a folate-sensitive fragile site on chromosome 10 (fra(10)(q23.3)). These CGG repeat tracts can normally range from 8 to 14 units, occasionally expanding to >200 repeats, leading to hypermethylation and transcriptional silencing. However, unlike other repeat expansion disorders, no direct disease phenotype has been conclusively associated with expansion of the CGG repeat in FRA10AC1. The protein product is classified as a nuclear phosphoprotein, but its precise biological role and possible involvement in pathogenesis remain unclear. The gene is sometimes referenced in the context of CGG repeat expansion research because of its similarity to other repeat loci that are implicated in neurological disorders, but it is not currently considered a druggable or therapeutic target.

Other names

C10orf4F26C11.1-likeFRA10Afragile site, folic acid type, rarefra(10)(q23.3) or fra(10)(q24.2) candidate 1FRA10A associated CGG repeat 1

no known mechanism as a drug target; approaches that target CGG repeat expansions involve antisense oligonucleotides, RNA interference, and small molecule binding, generally not proven for this specific locus