Description
Product Characteristics:
C10orf4, also known as FRA10A or FRA10AC1, is a 315 amino acid nuclear protein that is expressed strongly in kidney, liver, heart, brain and skeletal muscle. Defects in the gene encoding C10orf4 are characterized by an expansion of a polymorphic CGG repeat within the 5'-UTR of the gene, an event that is thought to cause folate-sensitive fragile site FRA10A expression. Expression of this mutated FRA10A protein may be associated with tumorigenesis, neurological disorders and mental retardation. C10orf4 is believed to be conserved between species. Five isoforms of C10orf4, all of which differ in their C-termini, are expressed due to alternative splicing events.
Synonyms: Chromosome 10 open reading frame 4, F26C11.1 like, FRA10AC1, FRA10AC1 protein, Fragile site 10q23.3, PRO2972, Protein FRA10AC1, Rare folic acid type fragile site FRA10q23.3 candidate gene 1, F10C1_HUMAN.
Target Information: 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. [provided by RefSeq, Mar 2010]