FRA10AC1, Official Symbol FRA10AC1provided by HGNC Official Full Name FRA10A associated CGG repeat 1provided by HGNC Primary source HGNC:HGNC:1162 See related Ensembl:ENSG00000148690 MIM:608866; AllianceGenome:HGNC:1162 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FRA10A; NEDGFC; C10orf4; F26C11.1-like Summary The protein encoded by this gene is a nuclear phosphoprotein of unknown function. This gene contains a tandem CGG repeat region within a CpG island that normally consists of 8-14 repeats but can expand to over 200 repeats. The repeat region is within the 5' UTR of some transcript variants, but is intronic to another variant. The expanded repeat allele is a fragile site and becomes hypermethylated, causing a reduction in gene expression. A disease phenotype has not been associated with expanded alleles. This gene is found within the rare FRA10A folate-sensitive fragile site. [provided by RefSeq, Dec 2016] Expression Ubiquitous expression in brain (RPKM 6.1), testis (RPKM 5.4) and 25 other tissues See more Orthologs mouse all