PAX5是致癌基因，编码蛋白是一种转录因子，属于配对-盒转录因子家族中的蛋白质，在早期B细胞发育和分化中起重要作用。PAX5通过促进VDJ基因重排，激活B细胞特异性基因的表达，同时抑参与其他造血分化程序的基因，在骨髓多能祖细胞向B淋巴谱系的分化中起着关键作用。在B细胞急性淋巴细胞白血病（ALL）中发现PAX5突变、易位和缺失。PAX5的胚系敏感突变与B细胞ALL有关。

PAX5 encodes a transcription factor involved in B-cell development. Translocations of PAX5 are found in lymphomas and leukemias. PAX5 is a protein in the paired-box family of transcription factors that is important in early B-cell development and differentiation. PAX5 plays a key role in the commitment of bone marrow multipotent progenitors to the B-lymphoid lineage by favoring VDJ gene rearrangement and activating the expression of B-cell–specific genes while simultaneously repressing genes involved in other hematopoietic differentiation programs. PAX5 mutations, translocations, and deletions are found in B-cell acute lymphoblastic leukemia (ALL). A germline susceptibility mutation in PAX5 for development of B-cell ALL has also been identified.

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