RAG2

RAG2 or Recombination Activating Gene 2 is a gene that in humans is encoded by the RAG2 gene. It is located on chromosome 11 in humans. RAG2, along with RAG1, plays a crucial role in the immune system by initiating the genetic rearrangement of the T-cell receptor and B-cell receptor genes, a process known as V(D)J recombination.

Function

RAG2 is a component of the V(D)J recombinase complex, which mediates the process of V(D)J recombination. This process is essential for the development of mature B cells and T cells, which are key components of the adaptive immune system. The RAG2 protein acts as a scaffold that brings together the DNA substrates to be recombined and the RAG1 protein, which performs the actual DNA cleavage.

Clinical significance

Mutations in the RAG2 gene can lead to severe combined immunodeficiency (SCID), a condition characterized by a lack of functional T cells and B cells. This results in a severely compromised immune system, leaving affected individuals susceptible to a wide range of infections. Other conditions associated with RAG2 mutations include Omenn syndrome and atypical SCID.

Research

Research into the RAG2 gene and its associated protein continues to provide valuable insights into the workings of the immune system. It also has potential implications for the development of new treatments for immune disorders.

File:RAG2.png

The RAG2 protein. Image from Wikimedia Commons.

See also

• RAG1
• V(D)J recombination
• Severe combined immunodeficiency
• Omenn syndrome

References

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