PAX5

Description

The PAX5 (paired box 5) is a protein-coding gene located on chromosome 9.

PAX5 is a member of the paired box (PAX) family of transcription factors, containing a highly conserved DNA-binding domain called the paired box. PAX proteins are crucial regulators in early development, and alterations in their expression can contribute to cancer. PAX5 encodes the B-cell lineage-specific activator protein (BSAP), which is expressed during early, but not late, stages of B-cell differentiation. PAX5 is also expressed in the developing CNS and testis, suggesting a role in neural development and spermatogenesis. PAX5 is located on chromosome 9p13 and is involved in t(9;14)(p13;q32) translocations, which are found in small lymphocytic lymphomas of the plasmacytoid subtype and derived large-cell lymphomas. This translocation brings the E-mu enhancer of the IgH gene locus near PAX5 promoters, suggesting that deregulation of PAX5 transcription contributes to lymphoma pathogenesis. Up to 97% of Reed–Sternberg cells in Hodgkin's lymphoma express PAX5. PAX5 interacts with TLE4 and Death associated protein 6.

PAX5 is a transcription factor essential for the commitment of lymphoid progenitors to the B-lymphocyte lineage. It plays a dual role in B-cell development by repressing inappropriate genes and activating lineage-specific genes. PAX5 regulates cell adhesion and migration, induces V(H)-to-D(H)J(H) recombination, facilitates pre-B-cell receptor signaling, and promotes the development of mature B-cells. It represses the cohesin-release factor WAPL, leading to global changes in chromosomal architecture in pro-B cells, which facilitates the generation of a diverse antibody repertoire.

PAX5 is also known as ALL3, BSAP, PAX-5.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing