PAX5 is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. PAX5 is expressed during B-lymphopoiesis and plays an essential role in early B, pre-B and pro-B lymphocyte development. PAX5 is also expressed in B-cell lymphomas, in developing CNS and testis and so the
encoded protein may also play a role in neural development and spermatogenesis. The PAX5 gene is located at 9p13, which is involved in t(9;14)(p13;q32) translocations recurring in small lymphocytic lymphomas of the plasmacytoid subtype, and in derived large-cell lymphomas. The translocation brings the E-mu enhancer of the IgH gene into close proximity to the PAX5 promoter, suggesting that the deregulation of transcription of PAX5 may contribute to the pathogenesis of these lymphomas. In constrast, a tumor suppressor role for PAX5 has been suggested in hepatocellular carcinoma and overexpression of PAX5 resulted in apoptosis in multiple myeloma.
PAX5 expression was also found in a subset of breast cancer cells and has been associated with better prognosis.
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