The Pax family of nuclear transcription factors is comprised of nine members that function during embryogenesis to regulate the temporal and position-dependent differentiation of cells. Pax family genes are also involved in a variety of signal transduction pathways in the adult organism. Mutations in Pax proteins have been linked to disease and cancer in humans. For example, the human PAX5 gene encodes a B cell lineage-specific protein, Pax-5, also designated B cell specific activator protein or BSAP, which is expressed in pro-B, pre-B and mature B lymphocytes but not in plasma cells. Pax-5 functions to regulate not only B cell development, but also influences the balance between immunoglobulin secretion and B cell proliferation. Overexpression of Pax-5 has been implicated in cellular transformation, and in the case of small lymphocytic lymphomas with plasmacytoid differentiation, a t(9;14)(p13;q32) translocation resulting in the deregulation of PAX5 gene expression has been detected.
