Biology:FRA10AC1
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Generic protein structure example |
FRA10AC1 is a protein that in humans is encoded by the FRA10AC1 gene.[1]
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.[1]
References
Further reading
- "A human protein-protein interaction network: a resource for annotating the proteome.". Cell 122 (6): 957–68. 2005. doi:10.1016/j.cell.2005.08.029. PMID 16169070.
- "Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein.". Genomics 84 (1): 69–81. 2005. doi:10.1016/j.ygeno.2003.12.017. PMID 15203205.
- "Gene expression profiling in human fetal liver and identification of tissue- and developmental-stage-specific genes through compiled expression profiles and efficient cloning of full-length cDNAs.". Genome Res. 11 (8): 1392–403. 2001. doi:10.1101/gr.175501. PMID 11483580.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.