This gene encodes a protein that may play a role in pre-mRNA splicing. Chromosomal translocations (X;1)(p11;q21) that result in fusion of this gene to TFE3 (GeneID 7030) have been associated with papillary renal cell carcinoma. A PRCC-TFE3 fusion protein is expressed in affected carcinomas and is likely associated with altered gene transactivation. This fusion protein has also been associated with disruption of the cell cycle.[provided by RefSeq, Aug 2010],
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Function:
Caution:The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.,Disease:A chromosomal aberration involving PRCC may be a cause of papillary renal cell carcinoma (PRCC) [MIM:605074]. Translocation t(X;1)(p11.2;q21.2) with TFE3.,tissue specificity:Ubiquitous in fetal and adult tissues.,
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Cellular Localization:
Nucleus .
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Tissue Expression:
Ubiquitous in fetal and adult tissues.
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Research Areas:
>>Transcriptional misregulation in cancer ;
>>Renal cell carcinoma