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[edit]
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[edit]
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[edit]
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[edit]
References[edit]
