" /> TFE3 wt Allele - CISMeF





Preferred Label : TFE3 wt Allele;

NCIt synonyms : Transcription Factor Binding to IGHM Enhancer 3 wt Allele; RCCP2; bHLHe33; TFEA; RCCX1;

NCIt definition : Human TFE3 wild-type allele is located in the vicinity of Xp11.22 and is approximately 17 kb in length. This allele, which encodes transcription factor E3 protein, plays a role in the regulation of immunoglobulin expression. The gene is involved in chromosomal aberrations that are associated with papillary renal cell carcinoma and alveolar soft part sarcoma.;

NCIt note : Chromosomal aberrations involving TFE3 are recurrent in alveolar soft part sarcoma (ASPS). Translocation t(X;17)(p11;q25) with ASPSCR1 forms a ASPSCR1-TFE3 fusion protein. Chromosomal aberrations involving TFE3 may be a cause of papillary renal cell carcinoma (PRCC). Translocation t(X;1)(p11.2;q21.2) with PRCC; translocation t(X;1)(p11.2;p34) with SFPQ; inversion inv(X)(p11.2;q12) that fuses NONO to TFE3. (SwissProt);

GenBank Accession Number : NM_006521;

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12/05/2024


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