PAX5, Paired box protein Pax-5, B-cell-specific transcription factor, BSAP
This gene encodes a member of the paired box (PAX) family of transcription factors. The central feature of this gene family is a novel, highly conserved DNA-binding motif, known as the paired box. Paired box transcription factors are important regulators in early development, and alterations in the expression of their genes are thought to contribute to neoplastic transformation. This gene encodes the B-cell lineage specific activator protein that is expressed at early, but not late stages of B-cell differentiation. Its expression has also been detected in developing CNS and testis and so the encoded protein may also play a role in neural development and spermatogenesis. This 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. This translocation brings the potent E-mu enhancerdevelopmental stage:Expressed at early B-cell differentiation, in the developing CNS and in adult testis.,disease:A chromosomal aberration involving PAX5 is a cause of acute lymphoblastic leukemia. Translocation t(9,18)(p13,q11.2) with ZNF521. Translocation t(9,3)(p13,p14.1) with FOXP1. Translocation t(9,12)(p13,p13) with ETV6.,function:May play an important role in B-cell differentiation as well as neural development and spermatogenesis. Involved in the regulation of the CD19 gene, a B-lymphoid-specific target gene.,PTM:O-glycosylated.,similarity:Contains 1 paired domain.,subunit:Interacts with DAXX (By similarity). Binds DNA as a monomer. Binds TLE4.,
