PAX5

Paired box protein Pax-5 is a is_associated_with::protein that in humans is encoded by the PAX5 is_associated_with::gene.

Function
The PAX5 gene is a member of the paired box (PAX) family of transcription factors. The central feature of this gene family is a novel, highly conserved is_associated_with::DNA-binding domain, known as the paired box. The PAX proteins are important regulators in early development, and alterations in the expression of their genes are thought to contribute to is_associated_with::neoplastic transformation. The PAX5 gene encodes the is_associated_with::B-cell lineage specific activator protein (BSAP) that is expressed at early, but not late stages of B-cell differentiation. Its expression has also been detected in developing CNS and testis, therefore, PAX5 gene product may not only play an important role in B-cell differentiation, but also in neural development and is_associated_with::spermatogenesis.

Clinical significance
The PAX5 gene is located in chromosome 9p13 region, which is involved in t(9;14)(p13;q32) translocations recurring in small lymphocytic lymphomas of the is_associated_with::plasmacytoid subtype, and in derived large-cell lymphomas. This translocation brings the potent E-mu enhancer of the IgH gene locus into close proximity of the PAX5 promoters, suggesting that the deregulation of PAX5 gene transcription contributes to the is_associated_with::pathogenesis of these lymphomas.

Up to 97% of the is_associated_with::Reed-Sternberg cells of is_associated_with::Hodgkins lymphoma express Pax-5.

Interactions
PAX5 has been shown to interact with is_associated_with::TLE4 and is_associated_with::Death associated protein 6.