FRA10AC1
Description
The FRA10AC1 (FRA10A associated CGG repeat 1) is a protein-coding gene located on chromosome 10.
FRA10AC1 is a protein found in humans, encoded by the FRA10AC1 gene. It resides in the nucleus and is a phosphoprotein, meaning it has phosphate groups attached. Its specific function is currently unknown. The gene's starting region (5' UTR) contains a DNA segment known as a CpG island, which is a region rich in cytosine and guanine nucleotides. Within this island lies a repeating sequence of CGG bases, typically found 8-14 times. However, this repeat can expand to over 200 copies. When expanded, the region becomes heavily methylated (a chemical modification) and the gene is silenced, meaning it is not transcribed into RNA. Interestingly, this expanded repeat has not been linked to any known diseases. The FRA10AC1 gene is located within a rare chromosomal region called the FRA10A fragile site, which is sensitive to folate deficiency.
May be involved in pre-mRNA splicing.
FRA10AC1 is also known as C10orf4, F26C11.1-like, FRA10A, NEDGFC.
