This gene encodes a member of the paired box (PAX) family oftranscription factors. The central feature of this gene family is anovel, highly conserved DNA-binding motif, known as the paired box. PAXproteins are important regulators in early development, and alterationsin the expression of their genes are thought to contribute to neoplastictransformation. This gene encodes the B-cell lineage specific activatorprotein that is expressed at early, but not late stages of B-celldifferentiation. Its expression has also been detected in developing CNSand testis and so the encoded protein may also play a role in neuraldevelopment and spermatogenesis. This gene is located at 9p13, which isinvolved in t(9;14)(p13;q32) translocations recurring in smalllymphocytic lymphomas of the plasmacytoid subtype, and in derivedlarge-cell lymphomas. This translocation brings the potent E-mu enhancerof the IgH gene into close proximity of the PAX5 promoter, suggestingthat the deregulation of transcription of this gene contributes to thepathogenesis of these lymphomas. Alternatively spliced transcriptvariants encoding different isoforms have been described but theirbiological validity has not been determined.

Immunohistochemical Analysis :-1:250

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