FRA10AC1

{{Short description|Protein-coding gene in the species Homo sapiens}}

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FRA10AC1 is a protein that in humans is encoded by the FRA10AC1 gene.{{cite web | title = Entrez Gene: C10orf4 chromosome 10 open reading frame 4| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=118924| accessdate = }}

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.

References

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Further reading

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  • {{cite journal | vauthors=Stelzl U, Worm U, Lalowski M |title=A human protein-protein interaction network: a resource for annotating the proteome. |journal=Cell |volume=122 |issue= 6 |pages= 957–68 |year= 2005 |pmid= 16169070 |doi= 10.1016/j.cell.2005.08.029 |display-authors=etal|hdl=11858/00-001M-0000-0010-8592-0 |s2cid=8235923 |hdl-access=free }}
  • {{cite journal | vauthors=Sarafidou T, Kahl C, Martinez-Garay I |title=Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein. |journal=Genomics |volume=84 |issue= 1 |pages= 69–81 |year= 2005 |pmid= 15203205 |doi= 10.1016/j.ygeno.2003.12.017 |display-authors=etal}}
  • {{cite journal | vauthors=Yu Y, Zhang C, Zhou G |title=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. |journal=Genome Res. |volume=11 |issue= 8 |pages= 1392–403 |year= 2001 |pmid= 11483580 |doi= 10.1101/gr.175501 | pmc=311073 |display-authors=etal}}

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