PAX5

PAX5

Symbol	PAX5
HGNC ID	8613
Alternative symbols	–
Entrez Gene	5079
OMIM	167414
RefSeq	NM_016734
UniProt	Q02548
Chromosome	9p13
Locus supplementary data	–

PAX5 (Paired Box 5) is a gene that encodes a member of the paired box (PAX) family of transcription factors. These transcription factors are essential for tissue development and cell differentiation in the developing embryo.

Function

PAX5 is crucial for B cell development and is expressed at early stages of B cell differentiation. It plays a role in maintaining the identity of B cells by activating B cell-specific genes and repressing genes that are specific to other lineages. PAX5 is also involved in the regulation of immunoglobulin gene rearrangement.

Clinical significance

Mutations or alterations in the PAX5 gene have been associated with various cancers, particularly acute lymphoblastic leukemia (ALL). PAX5 is often deleted or mutated in B-cell precursor ALL, which affects the normal function of the protein and contributes to the development of leukemia.

Interactions

PAX5 interacts with other proteins to regulate gene expression. It has been shown to interact with ETS1, a transcription factor involved in the regulation of immune response genes.

See also

• Transcription factor
• B cell development
• Acute lymphoblastic leukemia

External links

• PAX5 gene - NCBI
• PAX5 - Genetics Home Reference