background:
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].
Subcellular Location:
Nuclear.
Tissue Specificity:
Ubiquitously expressed with higher expression in brain, heart, skeletal muscle, kidney and liver.
Database links:
Entrez Gene: 143384 Human
SwissProt: Q86Y37 Human
SwissProt: Q8R0X2 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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