RAG2

RAG2 (Recombination Activating Gene 2) is a gene that plays a crucial role in the immune system by enabling the recombination of immunoglobulin and T cell receptor genes. This process is essential for the development of B cells and T cells, which are critical components of the adaptive immune system.

Function

The RAG2 gene, along with RAG1, is responsible for the initiation of V(D)J recombination, a mechanism that generates diverse antigen receptors necessary for the immune system to recognize a wide array of pathogens. The RAG2 protein forms a complex with the RAG1 protein, and together they introduce double-strand breaks at specific sites in the DNA of developing lymphocytes.

Clinical Significance

Mutations in the RAG2 gene can lead to severe immunodeficiency disorders, such as Severe Combined Immunodeficiency (SCID) and Omenn syndrome. These conditions are characterized by a lack of functional B and T cells, leading to increased susceptibility to infections.

Research

Studies on RAG2 have provided insights into the mechanisms of genomic instability and the development of lymphoid malignancies. Understanding the function and regulation of RAG2 is crucial for developing therapies for immunodeficiency disorders and certain types of cancer.

See Also

• RAG1
• V(D)J recombination
• Adaptive immune system
• Severe Combined Immunodeficiency

External Links

• [RAG2 Gene - Genetics Home Reference](https://ghr.nlm.nih.gov/gene/RAG2)
• [RAG2 - GeneCards](https://www.genecards.org/cgi-bin/carddisp.pl?gene=RAG2)