PAX5

From WikiMD's Wellness Encyclopedia

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[edit | edit source]

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.

Structure[edit | edit source]

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[edit | edit source]

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.

Research[edit | edit source]

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.

File:PAX5 protein structure.jpg
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.

See Also[edit | edit source]

References[edit | edit source]


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Contributors: Prab R. Tumpati, MD