PAX5: Difference between revisions

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'''PAX5''' is a member of the paired box (PAX) family of transcription factors. This particular protein is crucial for B cell development and plays a significant role in lymphogenesis. Mutations in the PAX5 gene are associated with several types of cancer, including [[acute lymphoblastic leukemia]] and [[non-Hodgkin lymphoma]].


== Function ==
{{Infobox gene
PAX5 is a [[transcription factor]] that plays a critical role in B cell development. It is expressed in early B cell progenitors and remains active until the mature B cell stage. PAX5 regulates the expression of several genes involved in B cell differentiation, including [[CD19]], [[CD79a]], and [[BLNK]]. It also suppresses genes that promote differentiation into other cell types, ensuring the cell remains on the B cell pathway.
| name = PAX5
| image = <!-- Image removed -->
| caption = <!-- Caption removed -->
| HGNCid = 8613
| symbol = PAX5
| alt_symbols = BSA, EBB-1, HUP48, PAX-5, BSAP
| EntrezGene = 5079
| OMIM = 167414
| RefSeq = NM_016734
| UniProt = Q02548
| chromosome = 9
| arm = p
| band = 13
| locus = 2
}}


== Structure ==
'''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]].
The PAX5 protein consists of a paired domain, an octapeptide, and a partial homeodomain. The [[paired domain]] is responsible for DNA binding, while the octapeptide and partial homeodomain contribute to protein-protein interactions.


== Clinical Significance ==
== Function ==
Mutations in the PAX5 gene can lead to various types of cancer. In particular, PAX5 is frequently mutated in [[B-cell precursor acute lymphoblastic leukemia]] (BCP-ALL), where it contributes to leukemogenesis by disrupting normal B cell development. PAX5 mutations are also found in some cases of [[non-Hodgkin lymphoma]].
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.


== Research ==
== Clinical significance ==
Research into PAX5 is ongoing, with scientists investigating its role in B cell development and cancer. Understanding how PAX5 mutations contribute to cancer could lead to new treatments for diseases like BCP-ALL and non-Hodgkin lymphoma.
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.


[[File:PAX5 protein structure.jpg|thumb|right|300px|Structure of the PAX5 protein. The paired domain (blue) is responsible for DNA binding, while the octapeptide (green) and partial homeodomain (red) contribute to protein-protein interactions.]]
== 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 ==
== See also ==
* [[Paired box]]
* [[Transcription factor]]
* [[Transcription factor]]
* [[B cell]]
* [[B cell development]]
* [[Acute lymphoblastic leukemia]]
* [[Acute lymphoblastic leukemia]]
* [[Non-Hodgkin lymphoma]]


== References ==
== References ==
<references />
{{Reflist}}
 
== External links ==
* [https://www.ncbi.nlm.nih.gov/gene/5079 PAX5 gene - NCBI]
* [https://ghr.nlm.nih.gov/gene/PAX5 PAX5 - Genetics Home Reference]


[[Category:Genes on human chromosome 9]]
[[Category:Transcription factors]]
[[Category:Transcription factors]]
[[Category:Oncology]]
[[Category:Oncogenes]]
[[Category:Immunology]]
{{medicine-stub}}

Latest revision as of 20:22, 30 December 2024


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]

<references group="" responsive="1"></references>


External links[edit]

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